List of variants in gene PTCD3 reported as uncertain significance for combined oxidative phosphorylation deficiency 51

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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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.1551A>C (p.Lys517Asn)	rs1674541838	0.00001
NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu)	rs147045229
NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser)	rs777373754

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