ClinVar Miner

List of variants in gene PDHX studied for not specified

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_003477.3(PDHX):c.1023+16C>G rs10768108 0.51317
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324 0.00717
NM_003477.3(PDHX):c.566G>A (p.Arg189His) rs61752925 0.00665
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018 0.00536
NM_003477.3(PDHX):c.642-19A>G rs138324257 0.00151
NM_003477.3(PDHX):c.618C>G (p.Gly206=) rs143997835 0.00126
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_003477.3(PDHX):c.1503C>T (p.Ala501=) rs151049569 0.00083
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_003477.3(PDHX):c.542+10T>C rs368960575 0.00021
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003477.3(PDHX):c.248C>T (p.Ala83Val) rs745866603 0.00004
NM_003477.3(PDHX):c.526A>G (p.Ile176Val) rs767427196 0.00004
NM_003477.3(PDHX):c.1248-15T>C rs749908412 0.00002
NM_003477.3(PDHX):c.789A>G (p.Val263=) rs755428861 0.00002
NM_003477.3(PDHX):c.241+15T>A rs543696996 0.00001
NM_003477.3(PDHX):c.675G>A (p.Thr225=) rs558284287 0.00001
NC_000011.9:g.(34938363_34952950)_(34953032_34969052)dup
NM_003477.2(PDHX):c.-178T>C rs2133931431
NM_003477.3(PDHX):c.1023+18A>G rs11032962
NM_003477.3(PDHX):c.1432G>C (p.Val478Leu)
NM_003477.3(PDHX):c.161-10dup rs771708416
NM_003477.3(PDHX):c.250G>A (p.Val84Met)
NM_003477.3(PDHX):c.474G>T (p.Glu158Asp) rs148723565
NM_003477.3(PDHX):c.769C>A (p.Arg257=) rs768910663
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs)
NM_003477.3(PDHX):c.828T>G (p.Thr276=) rs1554989176

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