ClinVar Miner

List of variants in gene PNPT1 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1247+29C>T rs782604 0.93874
NM_033109.5(PNPT1):c.867-47T>A rs782631 0.92991
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
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.1619A>G (p.Asn540Ser) rs202190573 0.00010
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.1361C>G (p.Ala454Gly) rs200088200 0.00001
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) rs879255657 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr) rs774425075 0.00001
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg) rs397514598
NM_033109.5(PNPT1):c.1284+4A>C
NM_033109.5(PNPT1):c.1285-4del rs745754666
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) rs1696380450
NM_033109.5(PNPT1):c.1400C>A (p.Pro467His)
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) rs767310806
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg) rs1559094461
NM_033109.5(PNPT1):c.1528G>A (p.Ala510Thr)
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter) rs2104038061
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.1823-6T>A
NM_033109.5(PNPT1):c.1906+1G>A rs1695931094
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) rs144252007
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro) rs1559114055
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr) rs752550279
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) rs750110394
NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter) rs780383722
NM_033109.5(PNPT1):c.404-1G>A rs863225449
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.496G>A (p.Asp166Asn) rs2104157202
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr) rs1365308037
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) rs778100619

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