ClinVar Miner

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

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=) rs35969420 0.00185
NM_183050.4(BCKDHB):c.477+14C>T rs112504381 0.00185
NM_183050.4(BCKDHB):c.742+7A>T rs111903796 0.00185
NM_183050.4(BCKDHB):c.840+33A>G rs112060016 0.00121
NM_183050.4(BCKDHB):c.634-32T>C rs113814307 0.00120
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_183050.4(BCKDHB):c.*2186A>G rs938094875 0.00036
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) rs368345065 0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=) rs934559515 0.00001
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=) rs1488608145 0.00001
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=) rs904277226
NM_183050.4(BCKDHB):c.196+8C>G rs1337392511
NM_183050.4(BCKDHB):c.478-15C>T rs772227275
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.951+48C>T rs3749896

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