ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial complex III deficiency nuclear type 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=)	rs2106324466
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)	rs1459378570

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