ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 35 by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn) rs766087007 0.00006
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)

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