ClinVar Miner

List of variants in gene PDHX studied for X-linked disease

Included ClinVar conditions (311):
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Gene type:
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Total variants: 87
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HGVS dbSNP
AJ298105.1:g.61273_107768delins6086
NG_013368.1:g.5604_20276del
NM_001135024.1(PDHX):c.115+15G>A rs886048246
NM_001135024.1(PDHX):c.115+41C>T rs112032820
NM_001135024.1(PDHX):c.115+41_115+43del rs371074122
NM_001135024.1(PDHX):c.115+46G>C rs375130125
NM_001135024.1(PDHX):c.115+82C>A rs2956110
NM_001135024.1(PDHX):c.115+8C>A
NM_001166158.1(PDHX):c.-197del rs1158194122
NM_001166158.1(PDHX):c.-202A>G rs113073242
NM_001166158.1(PDHX):c.-208C>T rs555380381
NM_003477.3(PDHX):c.*114A>G rs76663700
NM_003477.3(PDHX):c.*123A>G rs59918794
NM_003477.3(PDHX):c.*173G>A rs75863418
NM_003477.3(PDHX):c.*200T>C rs16926653
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.*486G>T rs9326
NM_003477.3(PDHX):c.*644C>A rs7808
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.*890T>C rs1049333
NM_003477.3(PDHX):c.*904G>T
NM_003477.3(PDHX):c.-23C>A rs201033364
NM_003477.3(PDHX):c.-27C>T
NM_003477.3(PDHX):c.-4C>G rs3818401
NM_003477.3(PDHX):c.-7C>T rs751680964
NM_003477.3(PDHX):c.1024-1G>A rs724159830
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
NM_003477.3(PDHX):c.1183-3088_1247+760del
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738
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.1336C>T (p.Arg446Ter) rs1135402725
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
NM_003477.3(PDHX):c.161-6T>C rs200438675
NM_003477.3(PDHX):c.241+3G>A rs78878052
NM_003477.3(PDHX):c.242-4G>A
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941
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.438C>T (p.Asp146=) rs75182779
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.479G>A (p.Arg160His) rs747386411
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106
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.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.620del (p.Pro207fs) rs724159979
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744
NM_003477.3(PDHX):c.641+1G>A rs724159829
NM_003477.3(PDHX):c.641+4T>C rs2767035
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582
NM_003477.3(PDHX):c.88_91del (p.Lys30fs) rs724159828
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) rs1554989996
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997

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