ClinVar Miner

List of variants in gene PDHX reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_001135024.1(PDHX):c.115+15G>A rs886048246
NM_001135024.1(PDHX):c.115+8C>A
NM_003477.3(PDHX):c.*259G>T rs771515806
NM_003477.3(PDHX):c.*331G>C rs555691861
NM_003477.3(PDHX):c.*650G>A rs886048249
NM_003477.3(PDHX):c.*662A>T
NM_003477.3(PDHX):c.*742C>T
NM_003477.3(PDHX):c.*743G>A rs577162977
NM_003477.3(PDHX):c.*763G>A rs886048250
NM_003477.3(PDHX):c.*783G>T
NM_003477.3(PDHX):c.*821A>T
NM_003477.3(PDHX):c.*874A>G
NM_003477.3(PDHX):c.-27C>T
NM_003477.3(PDHX):c.-7C>T rs751680964
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly) rs200866298
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
NM_003477.3(PDHX):c.161-6T>C rs200438675
NM_003477.3(PDHX):c.242-4G>A rs199583315
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.3(PDHX):c.542+10T>C rs368960575
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp) rs61752927
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)

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