ClinVar Miner

List of variants in gene ACVRL1 studied for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

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Total variants: 30
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.2(ACVRL1):c.1196G>T (p.Trp399Leu) rs121909289
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_000020.2(ACVRL1):c.1280A>T (p.Asp427Val) rs1085307420
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.2(ACVRL1):c.1388delG (p.G463Afs*2) rs1085307423
NM_000020.2(ACVRL1):c.1390delC (p.L464*) rs1085307424
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_000020.2(ACVRL1):c.1450delinsTG (p.Arg484fs) rs1085307427
NM_000020.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.2(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.2(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405
NM_000020.2(ACVRL1):c.37delC (p.L13Cfs*2) rs1085307404
NM_000020.2(ACVRL1):c.593T>A (p.Val198Glu) rs886043123
NM_000020.2(ACVRL1):c.602A>G (p.Gln201Arg) rs1085307407
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.653_654inv (p.Arg218Pro)
NM_000020.2(ACVRL1):c.760_762delGAC (p.Asp254del) rs387906393
NM_000020.2(ACVRL1):c.788A>G (p.Asp263Gly) rs1085307408
NM_000020.2(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409

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