List of variants reported as benign for inborn disorder of branched-chain amino acid metabolism by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	rs12021720	0.87100
NM_000108.5(DLD):c.685-14T>A	rs80111449	0.02691
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)	rs10404506	0.01970
NM_000108.5(DLD):c.249T>C (p.Val83=)	rs2228664	0.00985
NM_000108.5(DLD):c.1422A>C (p.Gly474=)	rs34453495	0.00918
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)	rs146249007	0.00864
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	rs34442879	0.00790
NM_000108.5(DLD):c.543A>T (p.Ile181=)	rs61749952	0.00461
NM_001918.5(DBT):c.1282-13_1282-9del	rs761681999	0.00456
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	rs55940366	0.00365
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)	rs11549935
NM_001918.5(DBT):c.1210-10del	rs398123658
NM_001918.5(DBT):c.1210-4del	rs201117345
NM_001918.5(DBT):c.1282-14_1282-9del	rs760164623
NM_001918.5(DBT):c.251+19dup	rs201469612

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