List of variants in gene DBT reported as pathogenic for maple syrup urine disease type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.1150= (p.Ser384=)	rs12021720	0.12900
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00022
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs)	rs768832921	0.00004
NM_001918.5(DBT):c.902G>A (p.Arg301His)	rs770981889	0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	rs398123676	0.00001
NM_001918.3(DBT):c.1282-4142_*(434_435)del
NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA
NM_001918.3:c.48_171del
NM_001918.5(DBT):c.1017+1del	rs796052134
NM_001918.5(DBT):c.1355A>G (p.His452Arg)	rs121965002
NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)	rs121965000
NM_001918.5(DBT):c.294C>G (p.Ile98Met)	rs121965001
NM_001918.5(DBT):c.360del (p.Lys120fs)	rs398123668
NM_001918.5(DBT):c.581C>G (p.Ser194Ter)	rs121965003
NM_001918.5(DBT):c.773-2A>G	rs398123674
NM_001918.5(DBT):c.898del (p.Ala300fs)	rs1570816218

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