ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-beta deficiency by Illumina Laboratory Services, Illumina

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_000925.3(PDHB):c.-49T>C rs373907802 0.00011
NM_000925.4(PDHB):c.*173C>T rs546485141 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990 0.00005
NM_000925.4(PDHB):c.*360A>G rs886058776 0.00003
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463 0.00003
NM_000925.4(PDHB):c.*365T>A rs1023863848 0.00001
NM_000925.4(PDHB):c.*77C>T rs766780930 0.00001
NM_000925.4(PDHB):c.-12G>A rs758352130 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912 0.00001
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln) rs772939767 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.*160A>G rs2062883381
NM_000925.4(PDHB):c.*328A>G rs2062880125
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A rs773433623

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