ClinVar Miner

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

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Total variants: 6
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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
NM_017646.6(TRIT1):c.23G>C (p.Arg8Pro)
NM_017646.6(TRIT1):c.528G>T (p.Lys176Asn)

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