ClinVar Miner

List of variants in gene BCKDHB reported as likely benign for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.742+239A>G rs4424040 0.03052
NM_183050.4(BCKDHB):c.197-46del rs147650695 0.01362
NM_183050.4(BCKDHB):c.742+194T>C rs7772330 0.01019
NM_183050.4(BCKDHB):c.951+62A>T rs61698752 0.00569
NM_183050.4(BCKDHB):c.1038+27A>C rs73463529 0.00532
NM_183050.4(BCKDHB):c.344-102A>G rs182274912 0.00532
NM_183050.4(BCKDHB):c.1038+100T>C rs150651504 0.00389
NM_000056.4(BCKDHB):c.-71C>T rs113448714 0.00361
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_183050.4(BCKDHB):c.197-10A>T rs761132978 0.00197
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val) rs534975518 0.00001
NM_183050.4(BCKDHB):c.861A>G (p.Val287=) rs1358699136 0.00001
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=) rs1582600488
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.693T>C (p.Asp231=) rs1582280979
NM_183050.4(BCKDHB):c.743-8G>T rs765391530
NM_183050.4(BCKDHB):c.840+156T>G rs77952351

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