ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency 51 by Baylor Genetics

Included ClinVar conditions (1):

Combined oxidative phosphorylation deficiency 51

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017952.6(PTCD3):c.1782A>G (p.Lys594=)	rs779780892	0.00002
NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu)	rs147045229
NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser)	rs777373754

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