ClinVar Miner

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

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.*331G>C rs555691861 0.00150
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
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.542+10T>C rs368960575 0.00021
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly) rs200866298 0.00014
NM_003477.3(PDHX):c.*763G>A rs886048250 0.00013
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp) rs61752927 0.00012
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_003477.3(PDHX):c.542G>A (p.Arg181Gln) rs148117169 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_003477.3(PDHX):c.970A>G (p.Ile324Val) rs768103465 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.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.1034A>T (p.Asp345Val) rs556425857 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_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_015957.4(APIP):c.-1C>T rs774565620 0.00001
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.-27C>T rs529801753
NM_003477.3(PDHX):c.1023+2267A>G
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp) rs200189510
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr) rs756801221
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln) rs200419151
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
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.793A>G (p.Thr265Ala)
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.57+57C>G rs988171497

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