ClinVar Miner

List of variants in gene PDHX reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001135024.1(PDHX):c.115+15G>A rs886048246
NM_001166158.1(PDHX):c.-208C>T rs555380381
NM_003477.3(PDHX):c.*114A>G rs76663700
NM_003477.3(PDHX):c.*259G>T rs771515806
NM_003477.3(PDHX):c.*27A>C rs74524673
NM_003477.3(PDHX):c.*331G>C rs555691861
NM_003477.3(PDHX):c.*650G>A rs886048249
NM_003477.3(PDHX):c.*743G>A rs577162977
NM_003477.3(PDHX):c.*763G>A rs886048250
NM_003477.3(PDHX):c.-7C>T rs751680964
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.161-6T>C rs200438675
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454
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.474G>A (p.Glu158=) rs148723565
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_003477.3(PDHX):c.542+10T>C rs368960575
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104
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.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.976G>C (p.Val326Leu) rs35560997

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