ClinVar Miner

List of variants in gene ACVRL1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.-52G>A rs573048639 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.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.82C>T (p.Arg28Trp) rs761650726 0.00004
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) rs779758131 0.00002
NM_000020.3(ACVRL1):c.-4G>T rs753902476 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.-5-17C>T
NM_000020.3(ACVRL1):c.1214T>C (p.Leu405Pro)
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1251C>T (p.Ile417=)
NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs) rs1057519168
NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln)
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.400G>A (p.Ala134Thr) rs886653596
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.526-4C>T
NM_000020.3(ACVRL1):c.548C>A (p.Thr183Asn)
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.880del (p.Leu294fs)

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