ClinVar Miner

List of variants studied for Fabry disease by Invitae

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Total variants: 89
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HGVS dbSNP
NC_000023.10:g.(?_100658779)_(100658993_?)del
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) rs782756052
NM_000169.2(GLA):c.1184G>C (p.Gly395Ala) rs375661583
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.1256A>T (p.Asn419Ile) rs1060500749
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) rs1555987101
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.185C>T (p.Ser62Phe)
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.2(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.33C>T (p.Gly11=) rs781856890
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.402T>C (p.Tyr134=) rs1183869568
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.45_49GCTTC[1] (p.Arg17fs) rs869312316
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.496_497delinsGG (p.Leu166Gly)
NM_000169.2(GLA):c.520T>C (p.Cys174Arg)
NM_000169.2(GLA):c.525C>G (p.Asp175Glu)
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) rs201679091
NM_000169.2(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.640-1del rs1555985200
NM_000169.2(GLA):c.640-4A>C rs1060500748
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.695T>C (p.Ile232Thr)
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.2(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>A (p.Gln250Lys)
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.2(GLA):c.786dup (p.Asn263fs) rs1555985091
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.826A>G (p.Ser276Gly)
NM_000169.2(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.2(GLA):c.831G>C (p.Trp277Cys) rs782196174
NM_000169.2(GLA):c.85G>A (p.Ala29Thr)
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362

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