List of variants reported as pathogenic for inborn disorder of branched-chain amino acid metabolism by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00013
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	rs753698250	0.00001
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)	rs137852870

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