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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	0.00001
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)	rs1204340475	0.00001
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	rs1057517944
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	rs758683062
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	rs1318446539
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	rs863223413
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	rs886039506
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	rs878853657
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)	rs1064794220
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	rs1064794219
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	rs1554810215
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)	rs863223718
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)	rs1060503440
NM_002890.3(RASA1):c.613_617del (p.Leu205fs)	rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)	rs1554044823

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