ClinVar Miner

List of variants in gene PDHB studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000003.12:g.58433858A>G rs373907802
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.4(PDHB):c.*160A>G
NM_000925.4(PDHB):c.*173C>T
NM_000925.4(PDHB):c.*199T>G rs886058777
NM_000925.4(PDHB):c.*201T>C
NM_000925.4(PDHB):c.*243A>C rs1126722
NM_000925.4(PDHB):c.*296C>G rs7231
NM_000925.4(PDHB):c.*328A>G
NM_000925.4(PDHB):c.*353T>C rs1126735
NM_000925.4(PDHB):c.*356A>G rs1126737
NM_000925.4(PDHB):c.*360A>G rs886058776
NM_000925.4(PDHB):c.*365T>A
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*77C>T
NM_000925.4(PDHB):c.*7C>G
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.*99C>T rs7230
NM_000925.4(PDHB):c.-12G>A
NM_000925.4(PDHB):c.-4C>T
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
NM_000925.4(PDHB):c.1008G>A (p.Lys336=)
NM_000925.4(PDHB):c.1014A>G (p.Leu338=)
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.150T>C (p.Asp50=) rs367846961
NM_000925.4(PDHB):c.156G>A (p.Lys52=)
NM_000925.4(PDHB):c.15T>A (p.Ser5=)
NM_000925.4(PDHB):c.15T>C (p.Ser5=)
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.204+9A>C rs202068841
NM_000925.4(PDHB):c.205-4G>T
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
NM_000925.4(PDHB):c.216G>A (p.Gly72=)
NM_000925.4(PDHB):c.231T>C (p.Tyr77=)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.24G>A (p.Val8=) rs776938446
NM_000925.4(PDHB):c.25C>A (p.Arg9=)
NM_000925.4(PDHB):c.267+10C>A
NM_000925.4(PDHB):c.267+42G>A
NM_000925.4(PDHB):c.27G>T (p.Arg9=) rs1576959597
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.292G>A (p.Gly98Ser)
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)
NM_000925.4(PDHB):c.303+16T>C rs75014325
NM_000925.4(PDHB):c.304-10G>T
NM_000925.4(PDHB):c.304-4dup
NM_000925.4(PDHB):c.304-8dup
NM_000925.4(PDHB):c.306T>C (p.Ala102=)
NM_000925.4(PDHB):c.30A>G (p.Arg10=)
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
NM_000925.4(PDHB):c.33C>G (p.Pro11=)
NM_000925.4(PDHB):c.33C>T (p.Pro11=)
NM_000925.4(PDHB):c.384C>G (p.Ala128=)
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)
NM_000925.4(PDHB):c.390C>T (p.Thr130=)
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804
NM_000925.4(PDHB):c.42+7A>G
NM_000925.4(PDHB):c.42+9C>T
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
NM_000925.4(PDHB):c.434_435delinsAG (p.Arg145Lys)
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.438G>C (p.Gly146=)
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.45C>G (p.Val15=)
NM_000925.4(PDHB):c.477A>C (p.Ser159=)
NM_000925.4(PDHB):c.48C>T (p.Ser16=)
NM_000925.4(PDHB):c.492C>T (p.Ala164=)
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)
NM_000925.4(PDHB):c.498T>C (p.Tyr166=) rs757249455
NM_000925.4(PDHB):c.501G>T (p.Gly167=) rs759053641
NM_000925.4(PDHB):c.507C>T (p.Cys169=)
NM_000925.4(PDHB):c.52C>T (p.Leu18=)
NM_000925.4(PDHB):c.564A>G (p.Lys188=) rs146996786
NM_000925.4(PDHB):c.582C>T (p.Asn194=)
NM_000925.4(PDHB):c.589+8C>G
NM_000925.4(PDHB):c.590-11_590-10del rs1179603141
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.4(PDHB):c.669T>C (p.Ile223=)
NM_000925.4(PDHB):c.696G>A (p.Arg232=)
NM_000925.4(PDHB):c.6G>A (p.Ala2=)
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.701-41G>A
NM_000925.4(PDHB):c.701-64G>T
NM_000925.4(PDHB):c.701-8G>A rs370346593
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.717G>C (p.Val239=) rs1576956301
NM_000925.4(PDHB):c.747C>T (p.Cys249=)
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
NM_000925.4(PDHB):c.792+9A>G
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.793-41G>A
NM_000925.4(PDHB):c.81G>A (p.Ala27=)
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)
NM_000925.4(PDHB):c.847G>A (p.Val283Ile)
NM_000925.4(PDHB):c.897T>C (p.Phe299=)
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599
NM_000925.4(PDHB):c.90G>A (p.Ala30=)
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)
NM_000925.4(PDHB):c.935-146G>C rs6445980
NM_000925.4(PDHB):c.935-5C>A
NM_000925.4(PDHB):c.935-5C>G
NM_000925.4(PDHB):c.935-5C>T
NM_000925.4(PDHB):c.935-7C>T
NM_000925.4(PDHB):c.935-9T>C rs935875454
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.939T>C (p.Pro313=) rs1576955073
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.954G>C (p.Leu318=) rs1576955034
NM_000925.4(PDHB):c.954G>T (p.Leu318=)
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
NM_000925.4(PDHB):c.96+10G>A
NM_000925.4(PDHB):c.96+10G>C
NM_000925.4(PDHB):c.96+12G>A
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_000925.4(PDHB):c.97-4A>T
NM_000925.4(PDHB):c.97-5G>A rs200429396
NM_000925.4(PDHB):c.97-7G>C
NM_000925.4(PDHB):c.990C>T (p.Val330=) rs267599918
NM_001173468.1(PDHB):c.-26G>A rs201243189

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