ClinVar Miner

Variants in gene ACVRL1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.2(ACVRL1):c.1246+9C>T rs115378744
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428

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