ClinVar Miner

List of variants studied for blood platelet disease by Centogene AG - the Rare Disease Company

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NC_000007.14:g.80649748_80727446del
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721

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