ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 13 by Baylor Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val) rs76401964 0.00111
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala) rs377657203 0.00003
NM_033109.5(PNPT1):c.1906+1G>A rs1695931094
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) rs144252007
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) rs750110394

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