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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.1038+2T>C	rs762419044	0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)	rs398124580	0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)	rs398124582	0.00001
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	rs398124562
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs)	rs797045411
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)	rs1005542482
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077

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