ClinVar Miner

List of variants in gene BCS1L reported as pathogenic

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Total variants: 43
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HGVS dbSNP
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590
NM_001079866.2(BCS1L):c.103G>C (p.Gly35Arg) rs121908579
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) rs121908580
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608
NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs) rs1939382793
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.336G>A (p.Trp112Ter)
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter)
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter) rs762980642
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) rs779331797
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255
NM_001079866.2(BCS1L):c.610_611del (p.Asp204fs)
NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs) rs863223915
NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter) rs754414954
NM_001079866.2(BCS1L):c.654_655del (p.Gly219fs) rs1575108381
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)
NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer) rs1553597538
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346
NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn) rs587777278
NM_001079866.2(BCS1L):c.903C>G (p.Tyr301Ter) rs1939635954
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)

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