ClinVar Miner

List of variants in gene BCS1L reported as pathogenic for Pili torti-deafness syndrome; GRACILE syndrome; Leigh syndrome; Mitochondrial complex III deficiency, nuclear type 1

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Total variants: 2
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NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590

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