ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E3-binding protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 82
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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_015957.4(APIP):c.-70T>C 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_015957.4(APIP):c.19C>T (p.Arg7Trp) 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_015957.4(APIP):c.57+77C>T 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.*114A>G rs76663700 0.00931
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.474G>A (p.Glu158=) rs148723565 0.00243
NM_003477.3(PDHX):c.*331G>C rs555691861 0.00150
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_003477.3(PDHX):c.161-6T>C rs200438675 0.00056
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836 0.00050
NM_003477.3(PDHX):c.*743G>A rs577162977 0.00042
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119 0.00039
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00036
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003477.3(PDHX):c.542+10T>C rs368960575 0.00021
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_003477.3(PDHX):c.*763G>A rs886048250 0.00013
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_003477.3(PDHX):c.*259G>T rs771515806 0.00010
NM_003477.3(PDHX):c.*650G>A rs886048249 0.00010
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104 0.00010
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454 0.00009
NM_015957.4(APIP):c.-18G>A rs761199870 0.00009
NM_003477.2(PDHX):c.-162C>A rs759318998 0.00008
NM_003477.2(PDHX):c.-155G>A rs886048246 0.00007
NM_015957.4(APIP):c.-30T>C rs567329509 0.00006
NM_003477.3(PDHX):c.242-4G>A rs199583315 0.00005
NM_003477.3(PDHX):c.402A>G (p.Glu134=) rs768560478 0.00005
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229 0.00002
NM_003477.3(PDHX):c.*742C>T rs577566893 0.00001
NM_003477.3(PDHX):c.-7C>T rs751680964 0.00001
NM_003477.3(PDHX):c.1164A>G (p.Glu388=) rs766725349 0.00001
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala) rs748511132 0.00001
NM_015957.4(APIP):c.-1C>T rs774565620 0.00001
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.3(PDHX):c.*662A>T rs1855847638
NM_003477.3(PDHX):c.*783G>T rs751318367
NM_003477.3(PDHX):c.*821A>T rs1020596537
NM_003477.3(PDHX):c.*874A>G rs1855851456
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_003477.3(PDHX):c.-27C>T rs529801753
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln) rs200419151
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu) rs1855230194
NM_015957.4(APIP):c.-14C>T rs886048245
NM_015957.4(APIP):c.-53C>T rs2956113
NM_015957.4(APIP):c.57+57C>G rs988171497
NM_015957.4(APIP):c.57+78A>G rs2016814
NM_015957.4(APIP):c.57+91G>T rs561463212

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