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

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Total variants: 15

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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_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	rs398124571	0.00001
NM_000709.4(BCKDHA):c.1251del (p.Ala418fs)
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)	rs137852870
NM_000709.4(BCKDHA):c.868G>C (p.Gly290Arg)
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
NM_001918.5(DBT):c.51+1G>C
NM_014362.4(HIBCH):c.644A>G (p.His215Arg)
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	rs786204004
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.575G>A (p.Gly192Glu)
NM_183050.4(BCKDHB):c.593A>T (p.Gln198Leu)
NM_183050.4(BCKDHB):c.845A>C (p.His282Pro)

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