ClinVar Miner

List of variants in gene PDHB reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_000925.4(PDHB):c.301A>G (p.Met101Val) rs747573712 0.00003
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys) rs763842440 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.1A>G (p.Met1Val)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.231T>G (p.Tyr77Ter)
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)
NM_000925.4(PDHB):c.302T>C (p.Met101Thr) rs2062921303
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000925.4(PDHB):c.478_479del (p.Gln160fs)
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser) rs2062912705
NM_000925.4(PDHB):c.495G>A (p.Trp165Ter)
NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)
NM_000925.4(PDHB):c.578del (p.Asp193fs)
NM_000925.4(PDHB):c.639_655del (p.Pro214fs)
NM_000925.4(PDHB):c.714dup (p.Val239fs)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_000925.4(PDHB):c.803del (p.Met268fs)
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg) rs145876456

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