ClinVar Miner

List of variants in gene ACVRL1 reported as pathogenic for not provided

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Total variants: 38
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.2(ACVRL1):c.1031_1032dupGT (p.Cys345Valfs) rs863223417
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1122delG (p.Tyr375Thrfs) rs863223418
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_000020.2(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.2(ACVRL1):c.1377+1G>A rs863223406
NM_000020.2(ACVRL1):c.1385C>G (p.S462*) rs1085307422
NM_000020.2(ACVRL1):c.139_140insCG (p.Arg47Profs) rs1555152455
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.2(ACVRL1):c.145dupG (p.Ala49Glyfs) rs863223415
NM_000020.2(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.264C>G (p.Tyr88Ter)
NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.2(ACVRL1):c.295_299delGTGTC (p.Val99Profs) rs1085307872
NM_000020.2(ACVRL1):c.406_409delGGTG (p.Gly136Serfs) rs863223416
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.439C>T (p.Gln147Ter) rs1555152650
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.639T>G (p.Tyr213Ter) rs962224649
NM_000020.2(ACVRL1):c.760_762delGAC (p.Asp254del) rs387906393
NM_000020.2(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.2(ACVRL1):c.913T>C (p.Ser305Pro)
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.916delG (p.Ala306Argfs) rs1064796070
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000020.2:c.1144delG
NM_000020.2:c.870delG

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