ClinVar Miner

List of variants in gene ACVRL1 reported as likely benign for not provided

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1247-195C>T rs118190956 0.02531
NM_000020.3(ACVRL1):c.1247-230T>C rs113586490 0.02223
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.62-69G>T rs114852790 0.00802
NM_000020.3(ACVRL1):c.625+146C>T rs116471331 0.00696
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.314-100G>A rs543716448 0.00390
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00374
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.*2277A>T rs529631289 0.00069
NM_000020.3(ACVRL1):c.666C>T (p.His222=) rs377194545 0.00034
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp) rs373133784 0.00006
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) rs779758131 0.00002
NM_000020.3(ACVRL1):c.1446G>A (p.Ala482=) rs142343727 0.00001
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) rs139486404 0.00001
NM_000020.3(ACVRL1):c.-5-17C>T
NM_000020.3(ACVRL1):c.1089C>T (p.Asp363=) rs1225049658
NM_000020.3(ACVRL1):c.1251C>T (p.Ile417=)
NM_000020.3(ACVRL1):c.1377+249TG[23] rs55945390
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.626-59G>T rs537246355
NM_000020.3(ACVRL1):c.773-292G>A rs117087866
NM_000020.3(ACVRL1):c.978T>C (p.Ile326=) rs746827105

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