ClinVar Miner

List of variants in gene PDHB 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: 44
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HGVS dbSNP
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000003.12:g.58433858A>G rs373907802
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.*328A>G
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.-12G>A
NM_000925.4(PDHB):c.-4C>T
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.25C>A (p.Arg9=)
NM_000925.4(PDHB):c.292G>A (p.Gly98Ser)
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)
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.501G>T (p.Gly167=) rs759053641
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.701-3C>T rs377063331
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
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.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_000925.4(PDHB):c.97-5G>A rs200429396

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