ClinVar Miner

List of variants studied for blood platelet disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) rs1739770567
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.397_398dup (p.Glu134fs) rs1829869628
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.[2086G>A];[385C>T]

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