List of variants reported as pathogenic for inborn disorder of branched-chain amino acid metabolism by Myriad Genetics, Inc.

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_001918.5(DBT):c.75_76del (p.Cys26fs)	rs768832921	0.00004
NM_000709.4(BCKDHA):c.288+1G>A	rs398123496	0.00002
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)	rs753234219	0.00001
NM_000709.4(BCKDHA):c.647-1G>C	rs753216964	0.00001

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