ClinVar Miner

List of variants in gene ACVRL1 reported as likely benign by Invitae

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Total variants: 6
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1134C>T (p.Pro378=) rs147021958
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.626-59delG rs864622702
NM_000020.2(ACVRL1):c.780C>T (p.Ile260=) rs911791104

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