List of variants reported as likely benign for Maple syrup urine disease type 1A by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	rs146932786	0.00092
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	rs140322984	0.00038
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	rs142967869	0.00029
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)	rs139390622	0.00015
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)	rs775471043	0.00010
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)	rs368567109	0.00009
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)	rs148224513	0.00008
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)	rs138373035	0.00008
NM_000709.4(BCKDHA):c.288+10G>A	rs376894084	0.00007
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)	rs370068964	0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)	rs398123514	0.00006
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)	rs373390136	0.00004
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)	rs749795206	0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)	rs369278165	0.00001
NM_000709.4(BCKDHA):c.693C>T (p.Val231=)	rs763610087	0.00001
NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)	rs750739703

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