ClinVar Miner

List of variants in gene DBT reported as pathogenic by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
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.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.251G>A (p.Trp84Ter) rs398123665
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.339_345del (p.Tyr114fs) rs398123667
NM_001918.5(DBT):c.360del (p.Lys120fs) rs398123668
NM_001918.5(DBT):c.433+1G>T rs794727635
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.773-2A>G rs398123674

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