ClinVar Miner

List of variants in gene ACVRL1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 8
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HGVS dbSNP
NM_000020.2(ACVRL1):c.-4G>T rs753902476
NM_000020.2(ACVRL1):c.1406_1413dup (p.Trp472fs) rs1057519168
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.3(ACVRL1):c.1120C>A (p.Arg374=) rs28936401
NM_000020.3(ACVRL1):c.191A>C (p.Gln64Pro) rs943040923
NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp) rs761650726
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284

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