List of variants reported as pathogenic for Maple syrup urine disease by Counsyl

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	rs753698250	0.00001
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)	rs1555766993
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)	rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	rs794727847
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)	rs869312129
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)	rs1057516799

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