ClinVar Miner

List of variants in gene LOC129936949, PDHB studied for Pyruvate dehydrogenase E1-beta deficiency

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln) rs202185395 0.00006
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599 0.00006
NM_000925.4(PDHB):c.96+10G>A rs755528489 0.00004
NM_000925.4(PDHB):c.42+16C>T rs764495667 0.00003
NM_000925.4(PDHB):c.81G>A (p.Ala27=) rs745487481 0.00003
NM_000925.4(PDHB):c.96+14G>C rs774007894 0.00003
NM_000925.4(PDHB):c.33C>G (p.Pro11=) rs771813233 0.00002
NM_000925.4(PDHB):c.36T>C (p.Leu12=) rs981644233 0.00002
NM_000925.4(PDHB):c.48C>T (p.Ser16=) rs375651141 0.00002
NM_000925.4(PDHB):c.52C>T (p.Leu18=) rs534688111 0.00002
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912 0.00001
NM_000925.4(PDHB):c.15T>C (p.Ser5=) rs775907917 0.00001
NM_000925.4(PDHB):c.43-18T>C rs548113809 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.78C>T (p.Thr26=) rs552159384 0.00001
NM_000925.4(PDHB):c.84G>T (p.Pro28=) rs1458982933 0.00001
NM_000925.4(PDHB):c.96+11C>T rs754446937 0.00001
NM_000925.4(PDHB):c.13T>C (p.Ser5Pro)
NM_000925.4(PDHB):c.14C>A (p.Ser5Tyr) rs1053613186
NM_000925.4(PDHB):c.15T>A (p.Ser5=) rs775907917
NM_000925.4(PDHB):c.15T>G (p.Ser5=)
NM_000925.4(PDHB):c.24G>A (p.Val8=) rs776938446
NM_000925.4(PDHB):c.25C>A (p.Arg9=) rs747302644
NM_000925.4(PDHB):c.27G>A (p.Arg9=)
NM_000925.4(PDHB):c.27G>C (p.Arg9=)
NM_000925.4(PDHB):c.27G>T (p.Arg9=) rs1576959597
NM_000925.4(PDHB):c.30A>G (p.Arg10=) rs2107943891
NM_000925.4(PDHB):c.33C>T (p.Pro11=) rs771813233
NM_000925.4(PDHB):c.39G>A (p.Arg13=)
NM_000925.4(PDHB):c.39G>T (p.Arg13=)
NM_000925.4(PDHB):c.41_43-12del
NM_000925.4(PDHB):c.42+11G>A
NM_000925.4(PDHB):c.42+14C>G
NM_000925.4(PDHB):c.42+14C>T
NM_000925.4(PDHB):c.42+18G>A
NM_000925.4(PDHB):c.42+19C>T
NM_000925.4(PDHB):c.42+20C>G
NM_000925.4(PDHB):c.42+7A>G rs2062944921
NM_000925.4(PDHB):c.42+9C>G rs755756637
NM_000925.4(PDHB):c.42+9C>T rs755756637
NM_000925.4(PDHB):c.43-11C>T
NM_000925.4(PDHB):c.43-7C>T
NM_000925.4(PDHB):c.4G>A (p.Ala2Thr)
NM_000925.4(PDHB):c.5C>T (p.Ala2Val)
NM_000925.4(PDHB):c.6G>A (p.Ala2=) rs1203148983
NM_000925.4(PDHB):c.6G>C (p.Ala2=)
NM_000925.4(PDHB):c.78C>A (p.Thr26=)
NM_000925.4(PDHB):c.90G>A (p.Ala30=) rs2107943592
NM_000925.4(PDHB):c.93G>A (p.Leu31=)
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+10G>C rs755528489
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_000925.4(PDHB):c.96+12G>C rs773433623
NM_000925.4(PDHB):c.96+13G>A
NM_000925.4(PDHB):c.96+13G>T
NM_000925.4(PDHB):c.96+14G>T
NM_000925.4(PDHB):c.96+17C>T
NM_000925.4(PDHB):c.96+19C>G
NM_000925.4(PDHB):c.96+19C>T
NM_000925.4(PDHB):c.96+2T>C rs2107943571
NM_000925.4(PDHB):c.96+6A>T
NM_000925.4(PDHB):c.96+8G>T rs2062943444
NM_000925.4(PDHB):c.96+9C>G
NM_000925.4(PDHB):c.9G>T (p.Ala3=)

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