ClinVar Miner

List of variants studied for Fabry disease by Color Diagnostics, LLC DBA Color Health

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.3(GLA):c.353G>A (p.Arg118His) rs143768851 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000169.3(GLA):c.-13G>C rs782051708 0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 0.00004
NM_000169.3(GLA):c.802-6T>G rs782529392 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.566T>G (p.Leu189Trp) rs1555985577 0.00003
NM_000169.3(GLA):c.601T>G (p.Ser201Ala) rs782164447 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.1192G>A (p.Glu398Lys) rs104894844 0.00002
NM_000169.3(GLA):c.122C>G (p.Thr41Ser) rs782362194 0.00002
NM_000169.3(GLA):c.195T>C (p.Ser65=) rs782803696 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.402T>C (p.Tyr134=) rs1183869568 0.00002
NM_000169.3(GLA):c.465T>C (p.Asp155=) rs782197072 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.963G>A (p.Gln321=) rs1001403373 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000169.3(GLA):c.-7C>T rs782637185 0.00001
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1016T>C (p.Val339Ala) rs869312211 0.00001
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu) rs1555984858 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1060A>G (p.Ile354Val) rs782200316 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.1233C>T (p.Gly411=) rs1555984746 0.00001
NM_000169.3(GLA):c.13A>G (p.Asn5Asp) rs782442966 0.00001
NM_000169.3(GLA):c.177G>A (p.Glu59=) rs782188157 0.00001
NM_000169.3(GLA):c.194+6A>G rs1463398466 0.00001
NM_000169.3(GLA):c.208A>G (p.Met70Val) rs1555986330 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.26A>G (p.His9Arg) rs1555987214 0.00001
NM_000169.3(GLA):c.32G>T (p.Gly11Val) rs782498765 0.00001
NM_000169.3(GLA):c.330T>G (p.Pro110=) rs781967285 0.00001
NM_000169.3(GLA):c.33C>T (p.Gly11=) rs781856890 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.369T>C (p.Tyr123=) rs869312282 0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr) rs869312303 0.00001
NM_000169.3(GLA):c.544G>A (p.Asp182Asn) rs1555985794 0.00001
NM_000169.3(GLA):c.597G>A (p.Val199=) rs1555985551 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.894T>C (p.Asn298=) rs869312444 0.00001
NM_000169.3(GLA):c.914C>T (p.Pro305Leu) rs1465021475 0.00001
NM_000169.3(GLA):c.-15C>T rs782422036
NM_000169.3(GLA):c.-2C>T rs1928603344
NM_000169.3(GLA):c.1061T>A (p.Ile354Lys) rs1928135337
NM_000169.3(GLA):c.1066C>A (p.Arg356=) rs104894827
NM_000169.3(GLA):c.1093T>G (p.Tyr365Asp) rs367658155
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.3(GLA):c.1109C>T (p.Ala370Val) rs2147470905
NM_000169.3(GLA):c.111A>C (p.Ala37=) rs1928586427
NM_000169.3(GLA):c.1135A>C (p.Asn379His) rs1928125044
NM_000169.3(GLA):c.1265A>T (p.Gln422Leu) rs1928113901
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.3(GLA):c.181G>A (p.Asp61Asn) rs1928578650
NM_000169.3(GLA):c.209T>C (p.Met70Thr)
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.259G>A (p.Glu87Lys) rs986730205
NM_000169.3(GLA):c.29T>C (p.Leu10Pro)
NM_000169.3(GLA):c.31_43dup (p.Ala15fs) rs1928595440
NM_000169.3(GLA):c.375C>T (p.His125=) rs2147477873
NM_000169.3(GLA):c.37G>A (p.Ala13Thr) rs2147487725
NM_000169.3(GLA):c.427G>T (p.Ala143Ser) rs104894845
NM_000169.3(GLA):c.475T>C (p.Phe159Leu) rs1928321516
NM_000169.3(GLA):c.475T>G (p.Phe159Val) rs1928321516
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.526A>G (p.Ser176Gly) rs1928317749
NM_000169.3(GLA):c.585C>T (p.Gly195=) rs1928285510
NM_000169.3(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.3(GLA):c.5A>G (p.Gln2Arg)
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.624G>T (p.Met208Ile) rs1928280306
NM_000169.3(GLA):c.63C>T (p.Leu21=) rs869312361
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378
NM_000169.3(GLA):c.673C>T (p.His225Tyr) rs1928196686
NM_000169.3(GLA):c.679C>A (p.Arg227=) rs104894841
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.721A>G (p.Ser241Gly) rs730880438
NM_000169.3(GLA):c.802-10T>G rs1928176118
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.822C>T (p.Gly274=) rs1928174281
NM_000169.3(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.3(GLA):c.85G>T (p.Ala29Ser) rs142449183
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.906C>T (p.His302=) rs1928165990
NM_000169.3(GLA):c.911G>C (p.Ser304Thr) rs1269629205
NM_000169.3(GLA):c.915T>C (p.Pro305=) rs782250167
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.3(GLA):c.970T>G (p.Leu324Val)
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537

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