ClinVar Miner

List of variants in gene ACVRL1 studied for Haemorrhagic telangiectasia 2

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Total variants: 4
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NM_000020.2(ACVRL1):c.1157G>A (p.Arg386His) rs141764916
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.2(ACVRL1):c.890A>G (p.His297Arg) rs139380315

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