List of variants reported as pathogenic for inborn disorder of branched-chain amino acid metabolism by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.75_76del (p.Cys26fs)	rs768832921	0.00004
NM_001918.5(DBT):c.1281+1G>T	rs1557943881	0.00001
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)	rs1568503938
NM_000709.4(BCKDHA):c.554del (p.Leu185fs)	rs1568506608
NM_001918.5(DBT):c.663_670del (p.Lys222fs)	rs748851630

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