List of variants reported as uncertain significance for Maple syrup urine disease type 1B

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)	rs143427811	0.00086
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)	rs142858149	0.00039
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val)	rs753690047	0.00005
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)	rs574122134	0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)	rs398124591	0.00004
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)	rs769876670	0.00003
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)	rs371131253	0.00002
NM_183050.4(BCKDHB):c.268A>G (p.Thr90Ala)	rs894467213	0.00002
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)	rs955755199	0.00002
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)	rs763434607	0.00002
NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr)	rs759040971	0.00001
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)	rs970365846	0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)	rs752892659	0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)	rs150769284	0.00001
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)	rs558448066	0.00001
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val)	rs374253889	0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)	rs398124575	0.00001
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)	rs765019762	0.00001
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)	rs762438504	0.00001
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)	rs370331553	0.00001
NM_183050.4(BCKDHB):c.1039-10C>G	rs760262704
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)	rs989873156
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)	rs774255890
NM_183050.4(BCKDHB):c.274+5C>T	rs1770414545
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)	rs1770499965
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)	rs755140913
NM_183050.4(BCKDHB):c.36C>G (p.Leu12=)	rs1464497822
NM_183050.4(BCKDHB):c.427G>A (p.Ala143Thr)
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)	rs1769081318
NM_183050.4(BCKDHB):c.951+4T>C	rs778135997

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