ClinVar Miner

List of variants studied for Fabry disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.688G>A (p.Ala230Thr) rs1928195468
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495

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