ClinVar Miner

List of variants reported as likely pathogenic for Maple syrup urine disease type 1B

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Total variants: 4
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HGVS dbSNP
NM_000056.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs) rs797045411
NM_183050.4(BCKDHB):c.82_92GGCGCGGGGCT[3] (p.Phe35fs) rs398124601

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