ClinVar Miner

List of variants studied for Mitochondrial complex III deficiency nuclear type 1 by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
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.1057G>A (p.Val353Met) rs121908574 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.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571

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