ClinVar Miner

List of variants in gene PDHA2 reported as uncertain significance by Ambry Genetics

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_005390.5(PDHA2):c.866G>C (p.Gly289Ala) rs138794638 0.00051
NM_005390.5(PDHA2):c.301G>C (p.Gly101Arg) rs200263773 0.00021
NM_005390.5(PDHA2):c.25G>A (p.Val9Met) rs550119402 0.00004
NM_005390.5(PDHA2):c.742C>T (p.Pro248Ser) rs200847664 0.00004
NM_005390.5(PDHA2):c.313G>A (p.Gly105Ser) rs781703541 0.00003
NM_005390.5(PDHA2):c.373C>T (p.Arg125Trp) rs143680144 0.00003
NM_005390.5(PDHA2):c.16A>T (p.Ile6Phe) rs199746220 0.00002
NM_005390.5(PDHA2):c.1040C>G (p.Ala347Gly) rs775742872 0.00001
NM_005390.5(PDHA2):c.1111T>A (p.Ser371Thr) rs781633807 0.00001
NM_005390.5(PDHA2):c.53C>T (p.Ala18Val) rs775462463 0.00001
NM_005390.5(PDHA2):c.604A>G (p.Ile202Val) rs779797568 0.00001
NM_005390.5(PDHA2):c.664A>G (p.Asn222Asp) rs1393435818 0.00001
NM_005390.5(PDHA2):c.1159G>T (p.Val387Phe) rs756609145
NM_005390.5(PDHA2):c.14T>C (p.Phe5Ser)
NM_005390.5(PDHA2):c.188A>G (p.Tyr63Cys)
NM_005390.5(PDHA2):c.22C>A (p.Arg8Ser) rs140695896
NM_005390.5(PDHA2):c.274T>G (p.Cys92Gly)
NM_005390.5(PDHA2):c.293G>A (p.Cys98Tyr)
NM_005390.5(PDHA2):c.314G>C (p.Gly105Ala)
NM_005390.5(PDHA2):c.347A>G (p.Tyr116Cys) rs1176446681
NM_005390.5(PDHA2):c.35G>A (p.Arg12Gln)
NM_005390.5(PDHA2):c.404A>G (p.Glu135Gly)
NM_005390.5(PDHA2):c.427T>C (p.Cys143Arg)
NM_005390.5(PDHA2):c.476A>G (p.Tyr159Cys)
NM_005390.5(PDHA2):c.488G>A (p.Gly163Asp)
NM_005390.5(PDHA2):c.518C>G (p.Ala173Gly)
NM_005390.5(PDHA2):c.556G>A (p.Glu186Lys) rs769517160
NM_005390.5(PDHA2):c.568A>C (p.Thr190Pro) rs143994593
NM_005390.5(PDHA2):c.568A>G (p.Thr190Ala) rs143994593
NM_005390.5(PDHA2):c.590C>T (p.Ala197Val)
NM_005390.5(PDHA2):c.920A>G (p.Glu307Gly)
NM_005390.5(PDHA2):c.95C>T (p.Ala32Val) rs1372569249
NM_005390.5(PDHA2):c.991G>A (p.Glu331Lys)
NM_005390.5(PDHA2):c.994G>A (p.Glu332Lys)

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