ClinVar Miner

List of variants reported as likely benign for mitochondrial complex III deficiency nuclear type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017775.4(TTC19):c.*1236_*1237dup rs61349729 0.59681
NM_017775.3(TTC19):c.-347C>A rs60636875 0.03461
NM_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_014402.5(UQCRQ):c.*1175del rs67367845
NM_017775.3(TTC19):c.-169C>G rs73276077

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