ClinVar Miner

List of variants in gene ACVRL1 studied for Primary pulmonary hypertension

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Total variants: 14
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.2(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.2(ACVRL1):c.1433C>A (p.Ala478Asp) rs1085307425
NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426
NM_000020.2(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.2(ACVRL1):c.1450C>G (p.Arg484Gly) rs121909288
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.2(ACVRL1):c.854T>C (p.Leu285Pro) rs1085307411
NM_000020.2(ACVRL1):c.936C>G (p.His312Gln) rs1085307412
NM_000020.2(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414

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