ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase E3-binding protein deficiency

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.*644C>A rs7808 0.80809
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_003477.2(PDHX):c.-302A>G rs2956112 0.78475
NM_003477.3(PDHX):c.*486G>T rs9326 0.64744
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_003477.2(PDHX):c.-88C>A rs2956110 0.59089
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_003477.2(PDHX):c.-390G>A rs2956114 0.34353
NM_003477.2(PDHX):c.-129C>T rs112032820 0.22090
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_003477.2(PDHX):c.-202A>G rs113073242 0.19613
NM_003477.2(PDHX):c.-505G>A rs16926448 0.19609
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_003477.3(PDHX):c.*173G>A rs75863418 0.05112
NM_003477.3(PDHX):c.*200T>C rs16926653 0.05109
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.*890T>C rs1049333 0.04989
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
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.*123A>G rs59918794 0.01748
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324 0.00717
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.*27A>C rs74524673 0.00299
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-506T>C rs2016814

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