ClinVar Miner

List of variants reported as uncertain significance for Fabry disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
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_033118.4(MYLK2):c.902C>A (p.Thr301Asn) rs587782968 0.00026
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000169.3(GLA):c.635A>G (p.Gln212Arg) rs1372233359 0.00010
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 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.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.1175G>C (p.Arg392Thr) rs782756052 0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 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.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.1256A>T (p.Asn419Ile) rs1060500749 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.457G>A (p.Asp153Asn) rs370299397 0.00002
NM_000169.3(GLA):c.481G>A (p.Asp161Asn) rs1386622522 0.00002
NM_000169.3(GLA):c.579G>C (p.Arg193Ser) rs782619655 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.831G>C (p.Trp277Cys) rs782196174 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.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.1127T>A (p.Val376Glu) rs1555984793 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.13A>G (p.Asn5Asp) rs782442966 0.00001
NM_000169.3(GLA):c.179C>T (p.Pro60Leu) rs869312262 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.212A>G (p.Glu71Gly) rs781927744 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.32G>T (p.Gly11Val) rs782498765 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 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.548-10T>A rs782440801 0.00001
NM_000169.3(GLA):c.590G>A (p.Ser197Asn) rs201679091 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.616C>G (p.Leu206Val) rs730880448 0.00001
NM_000169.3(GLA):c.640-4A>C rs1060500748 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu) rs398123220 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000169.3(GLA):c.85G>A (p.Ala29Thr) rs142449183 0.00001
NM_000169.3(GLA):c.914C>T (p.Pro305Leu) rs1465021475 0.00001
NC_000023.10:g.(?_100652797)_(100662891_?)dup
NC_000023.11:g.101408476G>C rs782312723
NM_000169.3(GLA):c.-1A>C
NM_000169.3(GLA):c.-2C>T rs1928603344
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1000-9G>A rs1928143594
NM_000169.3(GLA):c.1000G>A (p.Gly334Arg)
NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)
NM_000169.3(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.3(GLA):c.1015G>C (p.Val339Leu) rs2147471344
NM_000169.3(GLA):c.1016T>A (p.Val339Glu)
NM_000169.3(GLA):c.1037G>C (p.Gly346Ala)
NM_000169.3(GLA):c.1043C>A (p.Ala348Asp)
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.3(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.3(GLA):c.1049C>T (p.Ala350Val)
NM_000169.3(GLA):c.1052T>A (p.Val351Glu) rs1928136207
NM_000169.3(GLA):c.1054G>T (p.Ala352Ser)
NM_000169.3(GLA):c.1057A>G (p.Met353Val)
NM_000169.3(GLA):c.1074G>T (p.Glu358Asp) rs1928133181
NM_000169.3(GLA):c.1093T>G (p.Tyr365Asp) rs367658155
NM_000169.3(GLA):c.1097C>A (p.Thr366Asn)
NM_000169.3(GLA):c.1101C>T (p.Ile367=) rs1928129537
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.1115T>C (p.Leu372Pro) rs1928127729
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.3(GLA):c.112A>G (p.Arg38Gly) rs730880446
NM_000169.3(GLA):c.1135A>C (p.Asn379His) rs1928125044
NM_000169.3(GLA):c.1139C>T (p.Pro380Leu)
NM_000169.3(GLA):c.1142C>T (p.Ala381Val)
NM_000169.3(GLA):c.1147T>C (p.Phe383Leu)
NM_000169.3(GLA):c.1147_1149dup (p.Phe383_Ile384insPhe)
NM_000169.3(GLA):c.1154C>A (p.Thr385Lys) rs1555984780
NM_000169.3(GLA):c.1154C>T (p.Thr385Ile)
NM_000169.3(GLA):c.1164C>T (p.Leu388=)
NM_000169.3(GLA):c.1166C>G (p.Pro389Arg)
NM_000169.3(GLA):c.116C>T (p.Thr39Met)
NM_000169.3(GLA):c.118C>G (p.Pro40Ala)
NM_000169.3(GLA):c.1190A>G (p.Tyr397Cys) rs2147470653
NM_000169.3(GLA):c.1192G>C (p.Glu398Gln)
NM_000169.3(GLA):c.1193A>C (p.Glu398Ala)
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.3(GLA):c.1231G>A (p.Gly411Ser)
NM_000169.3(GLA):c.1237G>A (p.Val413Ile)
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro) rs398123200
NM_000169.3(GLA):c.1247A>G (p.Gln416Arg)
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.1259C>A (p.Thr420Lys) rs1928114444
NM_000169.3(GLA):c.1265A>T (p.Gln422Leu) rs1928113901
NM_000169.3(GLA):c.1269G>A (p.Met423Ile)
NM_000169.3(GLA):c.1271C>G (p.Ser424Ter)
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.132G>T (p.Trp44Cys) rs398123202
NM_000169.3(GLA):c.133C>G (p.Leu45Val)
NM_000169.3(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.3(GLA):c.158A>G (p.Asn53Ser) rs1928580573
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.17C>G (p.Pro6Arg) rs1928600137
NM_000169.3(GLA):c.181G>A (p.Asp61Asn) rs1928578650
NM_000169.3(GLA):c.181G>C (p.Asp61His)
NM_000169.3(GLA):c.185C>T (p.Ser62Phe) rs1603047699
NM_000169.3(GLA):c.195-13_195-12delinsGC
NM_000169.3(GLA):c.19G>C (p.Glu7Gln)
NM_000169.3(GLA):c.209T>C (p.Met70Thr)
NM_000169.3(GLA):c.215T>C (p.Met72Thr)
NM_000169.3(GLA):c.21A>T (p.Glu7Asp)
NM_000169.3(GLA):c.227T>C (p.Met76Thr)
NM_000169.3(GLA):c.228G>A (p.Met76Ile)
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.23T>A (p.Leu8Gln)
NM_000169.3(GLA):c.259G>A (p.Glu87Lys) rs986730205
NM_000169.3(GLA):c.25C>T (p.His9Tyr)
NM_000169.3(GLA):c.260A>T (p.Glu87Val)
NM_000169.3(GLA):c.265C>G (p.Leu89Val) rs1555986305
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.271A>C (p.Ile91Leu)
NM_000169.3(GLA):c.285G>C (p.Trp95Cys)
NM_000169.3(GLA):c.29T>C (p.Leu10Pro)
NM_000169.3(GLA):c.301G>A (p.Asp101Asn)
NM_000169.3(GLA):c.305C>T (p.Ser102Leu)
NM_000169.3(GLA):c.307G>A (p.Glu103Lys)
NM_000169.3(GLA):c.317T>C (p.Leu106Pro)
NM_000169.3(GLA):c.322G>A (p.Ala108Thr)
NM_000169.3(GLA):c.329C>G (p.Pro110Arg)
NM_000169.3(GLA):c.32G>C (p.Gly11Ala)
NM_000169.3(GLA):c.341C>T (p.Pro114Leu)
NM_000169.3(GLA):c.344A>C (p.His115Pro) rs1928402204
NM_000169.3(GLA):c.344A>G (p.His115Arg) rs1928402204
NM_000169.3(GLA):c.348G>T (p.Gly116=)
NM_000169.3(GLA):c.357G>T (p.Gln119His)
NM_000169.3(GLA):c.35G>T (p.Cys12Phe)
NM_000169.3(GLA):c.368A>G (p.Tyr123Cys)
NM_000169.3(GLA):c.369+13A>G
NM_000169.3(GLA):c.369+3G>A rs1333591942
NM_000169.3(GLA):c.369+4A>T
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.373C>T (p.His125Tyr) rs869312296
NM_000169.3(GLA):c.377G>T (p.Ser126Ile)
NM_000169.3(GLA):c.37G>A (p.Ala13Thr) rs2147487725
NM_000169.3(GLA):c.380A>C (p.Lys127Thr) rs1928328478
NM_000169.3(GLA):c.385C>A (p.Leu129Met)
NM_000169.3(GLA):c.388A>C (p.Lys130Gln)
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.3(GLA):c.40C>T (p.Leu14Phe) rs2147487699
NM_000169.3(GLA):c.427G>T (p.Ala143Ser) rs104894845
NM_000169.3(GLA):c.431G>A (p.Gly144Asp)
NM_000169.3(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.3(GLA):c.44C>T (p.Ala15Val)
NM_000169.3(GLA):c.455A>T (p.Tyr152Phe)
NM_000169.3(GLA):c.459C>A (p.Asp153Glu) rs1555985819
NM_000169.3(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.3(GLA):c.473C>T (p.Thr158Ile) rs1928321887
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.490G>A (p.Val164Ile) rs869312144
NM_000169.3(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.493G>A (p.Asp165Asn)
NM_000169.3(GLA):c.496C>A (p.Leu166Met) rs1928320069
NM_000169.3(GLA):c.49C>A (p.Arg17Ser)
NM_000169.3(GLA):c.500T>C (p.Leu167Pro) rs1928319806
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.530T>G (p.Leu177Trp)
NM_000169.3(GLA):c.533A>G (p.Glu178Gly)
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.545A>G (p.Asp182Gly) rs1928316998
NM_000169.3(GLA):c.546T>C (p.Asp182=) rs2147477318
NM_000169.3(GLA):c.547+3A>G rs1351477965
NM_000169.3(GLA):c.548-3C>T
NM_000169.3(GLA):c.548-5T>A
NM_000169.3(GLA):c.553A>G (p.Lys185Glu) rs2147476184
NM_000169.3(GLA):c.556C>T (p.His186Tyr)
NM_000169.3(GLA):c.557A>C (p.His186Pro)
NM_000169.3(GLA):c.557A>G (p.His186Arg)
NM_000169.3(GLA):c.558C>A (p.His186Gln)
NM_000169.3(GLA):c.562T>C (p.Ser188Pro) rs1555985579
NM_000169.3(GLA):c.567G>C (p.Leu189Phe) rs869312343
NM_000169.3(GLA):c.569C>G (p.Ala190Gly) rs2147476120
NM_000169.3(GLA):c.569C>T (p.Ala190Val)
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.585C>T (p.Gly195=) rs1928285510
NM_000169.3(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.3(GLA):c.594T>G (p.Ile198Met)
NM_000169.3(GLA):c.595G>T (p.Val199Leu)
NM_000169.3(GLA):c.5A>C (p.Gln2Pro)
NM_000169.3(GLA):c.5A>G (p.Gln2Arg)
NM_000169.3(GLA):c.601T>C (p.Ser201Pro) rs782164447
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.609G>C (p.Glu203Asp)
NM_000169.3(GLA):c.613C>G (p.Pro205Ala)
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.61C>G (p.Leu21Val)
NM_000169.3(GLA):c.624G>A (p.Met208Ile)
NM_000169.3(GLA):c.624G>T (p.Met208Ile) rs1928280306
NM_000169.3(GLA):c.626G>C (p.Trp209Ser) rs2147475837
NM_000169.3(GLA):c.638A>C (p.Lys213Thr) rs869312149
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.3(GLA):c.647A>C (p.Tyr216Ser)
NM_000169.3(GLA):c.64G>A (p.Val22Ile)
NM_000169.3(GLA):c.650C>T (p.Thr217Ile)
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378
NM_000169.3(GLA):c.673C>G (p.His225Asp) rs1928196686
NM_000169.3(GLA):c.673C>T (p.His225Tyr) rs1928196686
NM_000169.3(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.3(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.3(GLA):c.694A>G (p.Ile232Val)
NM_000169.3(GLA):c.695T>G (p.Ile232Ser) rs797044749
NM_000169.3(GLA):c.699T>A (p.Asp233Glu) rs1928194620
NM_000169.3(GLA):c.6G>C (p.Gln2His)
NM_000169.3(GLA):c.700G>C (p.Asp234His) rs1057524557
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.712A>G (p.Ser238Gly)
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.727T>A (p.Leu243Met) rs782453201
NM_000169.3(GLA):c.732C>G (p.Asp244Glu)
NM_000169.3(GLA):c.73G>T (p.Asp25Tyr)
NM_000169.3(GLA):c.74A>G (p.Asp25Gly)
NM_000169.3(GLA):c.74A>T (p.Asp25Val)
NM_000169.3(GLA):c.752A>G (p.Glu251Gly)
NM_000169.3(GLA):c.758TTG[1] (p.Val254del)
NM_000169.3(GLA):c.769G>A (p.Ala257Thr) rs2147472990
NM_000169.3(GLA):c.780G>A (p.Gly260=)
NM_000169.3(GLA):c.781G>A (p.Gly261Ser) rs886044878
NM_000169.3(GLA):c.790G>A (p.Asp264Asn)
NM_000169.3(GLA):c.793C>A (p.Pro265Thr)
NM_000169.3(GLA):c.794C>T (p.Pro265Leu)
NM_000169.3(GLA):c.799A>G (p.Met267Val)
NM_000169.3(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.3(GLA):c.802-10T>G rs1928176118
NM_000169.3(GLA):c.802-14A>T
NM_000169.3(GLA):c.805G>T (p.Val269Leu)
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.845C>A (p.Thr282Asn)
NM_000169.3(GLA):c.848A>G (p.Gln283Arg)
NM_000169.3(GLA):c.849G>C (p.Gln283His)
NM_000169.3(GLA):c.852G>A (p.Met284Ile)
NM_000169.3(GLA):c.857T>C (p.Leu286Pro)
NM_000169.3(GLA):c.85G>C (p.Ala29Pro)
NM_000169.3(GLA):c.85G>T (p.Ala29Ser) rs142449183
NM_000169.3(GLA):c.863C>A (p.Ala288Asp) rs869312437
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.868A>G (p.Met290Val) rs375538532
NM_000169.3(GLA):c.871G>T (p.Ala291Ser) rs869312439
NM_000169.3(GLA):c.874G>A (p.Ala292Thr) rs111812846
NM_000169.3(GLA):c.881T>C (p.Leu294Ser)
NM_000169.3(GLA):c.898C>T (p.Leu300Phe) rs2147472132
NM_000169.3(GLA):c.907A>G (p.Ile303Val)
NM_000169.3(GLA):c.911G>C (p.Ser304Thr) rs1269629205
NM_000169.3(GLA):c.913C>T (p.Pro305Ser)
NM_000169.3(GLA):c.920C>T (p.Ala307Val) rs869312447
NM_000169.3(GLA):c.922_936del (p.Lys308_Gln312del)
NM_000169.3(GLA):c.926C>G (p.Ala309Gly)
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.3(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.3(GLA):c.946G>A (p.Val316Ile) rs142217511
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.3(GLA):c.94C>G (p.Leu32Val) rs1928587825
NM_000169.3(GLA):c.958A>C (p.Asn320His) rs1555984950
NM_000169.3(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.3(GLA):c.968C>T (p.Pro323Leu)
NM_000169.3(GLA):c.970T>G (p.Leu324Val)
NM_000169.3(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000169.3(GLA):c.988C>G (p.Gln330Glu)
NM_000169.3(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000169.3(GLA):c.991C>A (p.Leu331Ile) rs730880437
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537
NM_000169.3(GLA):c.998A>T (p.Gln333Leu)

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