ClinVar Miner

List of variants reported as pathogenic for capillary malformation by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823

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