List of variants reported as benign for branched-chain keto acid dehydrogenase kinase deficiency by Invitae

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005881.4(BCKDK):c.615G>A (p.Thr205=)	rs14235	0.30943
NM_005881.4(BCKDK):c.845+10C>T	rs74015068	0.00955
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)	rs73530211	0.00299
NM_005881.4(BCKDK):c.249C>T (p.Asp83=)	rs138821043	0.00055
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)	rs142542453	0.00035
NM_005881.4(BCKDK):c.544-10C>T	rs370950849	0.00014

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