Fabry:Mapping point mutations/OMIM data

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Allelic variants

<figtable id="tab:omim_all"> All allelic variants found in OMIM

Number Phenotype Mutation dbSNP
.0001 FABRY DISEASE GLA, ARG356TRP rs104894827
.0002 FABRY DISEASE GLA, EX3DEL -
.0003 FABRY DISEASE, CARDIAC VARIANT FABRY DISEASE, INCLUDED GLA, ARG301GLN rs104894828
.0004 FABRY DISEASE GLA, TRP44TER rs104894829
.0005 FABRY DISEASE, CARDIAC VARIANT GLA, MET296VAL rs104894830
.0006 FABRY DISEASE GLA, EX4DEL -
.0007 FABRY DISEASE GLA, IVS6DS, G-T, +1 -
.0008 FABRY DISEASE, CARDIAC VARIANT GLA, GLN279GLU rs28935485
.0009 FABRY DISEASE GLA, PRO40SER rs104894831
.0010 FABRY DISEASE GLA, GLY328ARG rs104894832
.0011 FABRY DISEASE GLA, GLU66GLN rs104894833
.0011 FABRY DISEASE GLA, ARG112CYS rs104894834
.0012 FABRY DISEASE GLA, ASN34SER rs104894835
.0013 FABRY DISEASE GLA, CYS56GLY rs104894836
.0014 FABRY DISEASE GLA, PRO146SER rs104894837
.0015 FABRY DISEASE GLA, ALA156THR rs28935195
.0016 FABRY DISEASE GLA, TRP162ARG rs28935196
.0017 FABRY DISEASE GLA, CYS202TRP rs104894838
.0018 FABRY DISEASE GLA, ASN215SER rs28935197
.0019 FABRY DISEASE GLA, ARG227GLN rs104894840
.0020 FABRY DISEASE GLA, ARG227TER rs104894841
.0021 FABRY DISEASE GLA, ASP264VAL rs28935486
.0022 FABRY DISEASE GLA, ASP266VAL rs28935487
.0023 FABRY DISEASE GLA, VAL269ALA rs28935488
.0024 FABRY DISEASE GLA, TRP287TER rs104894839
.0025 FABRY DISEASE GLA, SER297PHE rs28935489
.0026 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE GLA, ASP313TYR rs28935490
.0027 FABRY DISEASE GLA, GLN327LYS rs28935491
.0028 FABRY DISEASE GLA, GLY328ALA rs28935492
.0029 FABRY DISEASE GLA, TRP340TER rs104894842
.0030 FABRY DISEASE GLA, ARG342GLN rs28935493
.0031 FABRY DISEASE GLA, ARG342TER rs104894843
.0032 FABRY DISEASE GLA, GLY361ARG rs28935494
.0033 FABRY DISEASE GLA, GLU398TER rs104894844
.0034 FABRY DISEASE GLA, IVSDS, GT-GG, +2 -
.0035 FABRY DISEASE GLA, IVS5AS, DEL -2,-3 -
.0036 FABRY DISEASE GLA, ALA143THR rs104894845
.0037 FABRY DISEASE GLA, 13-BP DEL, NT125 -
.0038 FABRY DISEASE GLA, 1-BP DEL, NT716 -
.0039 FABRY DISEASE GLA, 2-BP DEL, NT773 -
.0040 FABRY DISEASE GLA, 5-BP INS, NT954 -
.0041 FABRY DISEASE GLA, 11-BP DEL, NT1016 -
.0042 FABRY DISEASE GLA, 1-BP INS, NT1040 -
.0043 FABRY DISEASE GLA, 53-BP DEL, NT1123 -
.0044 FABRY DISEASE GLA, 2-BP DEL, NT1176 -
.0045 FABRY DISEASE GLA, 3-BP DEL, 1208AAG -
.0046 FABRY DISEASE GLA, EX1-2DEL -
.0047 FABRY DISEASE GLA, EX3-4DEL -
.0048 FABRY DISEASE GLA, EX3-7DEL -
.0049 FABRY DISEASE GLA, EX6-7DEL -
.0050 FABRY DISEASE GLA, EX2-6DUP -
.0051 FABRY DISEASE, CARDIAC VARIANT GLA, MET296ILE rs104894846
.0052 FABRY DISEASE, CARDIAC VARIANT GLA, ALA20PRO rs104894847
.0053 FABRY DISEASE GLA, 3-BP DEL, PHE383DEL -
.0054 FABRY DISEASE GLA, SER65THR rs104894848
.0055 FABRY DISEASE GLA, TYR365TER rs104894849
.0056 FABRY DISEASE, CARDIAC VARIANT GLA, IVS4, G-A, -4 -
.0057 FABRY DISEASE GLA, ALA143PRO rs104894845
.0058 FABRY DISEASE GLA, TYR222TER rs104894851
.0059 FABRY DISEASE GLA, THR410ALA rs104894852
.0060 FABRY DISEASE GLA, 2-BP DEL, 1277AA -
.0061 FABRY DISEASE GLA, 4-BP DEL, 1284ACTT -
.0062 FABRY DISEASE GLA, ASN272SER rs28935495

</figtable>



SNPs

<figtable id="tab:omim_SNPS"> SNPs found in OMIM

SNP disease/non-disease Disease dbSNP_entry
A20P disease FABRY DISEASE, CARDIAC VARIANT rs104894847
N34S disease FABRY DISEASE rs104894835
P40S disease FABRY DISEASE rs104894831
W44X disease FABRY DISEASE rs104894829
C56G disease FABRY DISEASE rs104894836
S65T disease FABRY DISEASE rs104894848
E66Q disease FABRY DISEASE rs104894833
R112C disease FABRY DISEASE rs104894834
A143T disease FABRY DISEASE rs104894845
A143P disease FABRY DISEASE rs104894845
P146S disease FABRY DISEASE rs104894837
A156T disease FABRY DISEASE rs28935195
W162R disease FABRY DISEASE rs28935196
C202W disease FABRY DISEASE rs104894838
N215S disease FABRY DISEASE rs28935197
Y222X disease FABRY DISEASE rs104894851
R227Q disease FABRY DISEASE rs104894840
R227X disease FABRY DISEASE rs104894841
D264V disease FABRY DISEASE rs28935486
D266V disease FABRY DISEASE rs28935487
V269A disease FABRY DISEASE rs28935488
N272S disease FABRY DISEASE rs28935495
Q279E disease FABRY DISEASE, CARDIAC VARIANT rs28935485
W287X disease FABRY DISEASE rs104894839
M296V disease FABRY DISEASE, CARDIAC VARIANT rs104894830
M296I disease FABRY DISEASE, CARDIAC VARIANT rs104894846
S297F disease FABRY DISEASE rs28935489
R301Q disease FABRY DISEASE, CARDIAC VARIANT FABRY DISEASE, INCLUDED rs104894828
D313Y disease RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE rs28935490
Q327K disease FABRY DISEASE rs28935491
G328R disease FABRY DISEASE rs104894832
G328A disease FABRY DISEASE rs28935492
W340X disease FABRY DISEASE rs104894842
R342Q disease FABRY DISEASE rs28935493
R342X disease FABRY DISEASE rs104894843
R356W disease FABRY DISEASE rs104894827
G361R disease FABRY DISEASE rs28935494
Y365X disease FABRY DISEASE rs104894849
E398X disease FABRY DISEASE rs104894844
T410A disease FABRY DISEASE rs104894852

</figtable>