ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter) rs2124597984
NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)

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