List of variants studied for Mitochondrial complex III deficiency nuclear type 1 by Genome-Nilou Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)	rs35843327	0.15996
NM_001079866.2(BCS1L):c.655+63C>T	rs36085075	0.05627
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)	rs33946522	0.05607
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)	rs2106333049
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	rs58447305

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