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: 15
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31316
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00902
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00360
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131 0.00090
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00038
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00035
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00021
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004

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