List of variants reported for Combined oxidative phosphorylation deficiency 35 by Neuberg Centre For Genomic Medicine, NCGM

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		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017646.6(TRIT1):c.1225G>A (p.Glu409Lys)	rs764506732	0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)	rs1047420796	0.00001
NM_017646.6(TRIT1):c.1085_1086del (p.Pro362fs)
NM_017646.6(TRIT1):c.1235-2A>G	rs2522382789
NM_017646.6(TRIT1):c.23G>C (p.Arg8Pro)
NM_017646.6(TRIT1):c.528G>T (p.Lys176Asn)
NM_017646.6(TRIT1):c.887G>A (p.Gly296Glu)

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