ClinVar Miner

List of variants reported as likely pathogenic for Fabry disease by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
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.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.640-1delG rs1555985200
NM_000169.2(GLA):c.748C>A (p.Gln250Lys)
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396

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