ClinVar Miner

List of variants in gene BCKDHB reported as uncertain significance for not specified

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser) rs955755199 0.00002
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_183050.4(BCKDHB):c.1165A>C (p.Met389Leu)
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867

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