ClinVar Miner

List of variants in gene BCS1L reported as pathogenic for mitochondrial complex III deficiency nuclear type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255 0.00001
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.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.655+1G>C rs1057516802
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly) rs1459378570
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571

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