ClinVar Miner

List of variants reported as pathogenic for Fabry disease by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 35
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HGVS dbSNP
NC_000023.10:g.(?_100658779)_(100658993_?)del
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.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) rs1555987101
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.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.45_49GCTTC[1] (p.Arg17fs) rs869312316
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.496_497delinsGG (p.Leu166Gly)
NM_000169.2(GLA):c.520T>C (p.Cys174Arg)
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-1G>A
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.707G>A (p.Trp236Ter) rs879254022
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.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.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228

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