ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) rs2124577339
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) rs1568572298

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