ClinVar Miner

List of variants in gene PDHB reported as likely benign for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.4(PDHB):c.*201T>C
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.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804
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.564A>G (p.Lys188=) rs146996786
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599
NM_000925.4(PDHB):c.97-5G>A rs200429396

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