ClinVar Miner

List of variants in gene DBT reported as likely pathogenic for Maple syrup urine disease

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Gene type:
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Total variants: 86
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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.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_001918.5(DBT):c.1A>G (p.Met1Val) rs759312184 0.00002
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1281+1G>T rs1557943881 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys) rs765257706 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NC_000001.10:g.(?_100671776)_(100672202_?)del
NC_000001.11:g.(?_100218757)_(100221872_?)del
NC_000001.11:g.100196336_100215732del
NM_001918.5(DBT):c.1017+1G>A
NM_001918.5(DBT):c.1017+1G>T
NM_001918.5(DBT):c.1018-2A>T
NM_001918.5(DBT):c.111_114del (p.Cys38fs)
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer) rs1553229661
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) rs1661797765
NM_001918.5(DBT):c.1196C>G (p.Ser399Cys) rs2100779875
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) rs1661796496
NM_001918.5(DBT):c.1210-1G>C
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
NM_001918.5(DBT):c.1240del (p.Met414fs)
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)
NM_001918.5(DBT):c.1281+1G>C rs1557943881
NM_001918.5(DBT):c.1282-5_1282-2del rs1553228653
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
NM_001918.5(DBT):c.136_137insTGACTATACTTCATTCA (p.Lys46fs)
NM_001918.5(DBT):c.1385del (p.Arg462fs)
NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer) rs1553233152
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.175+1G>A rs2100844517
NM_001918.5(DBT):c.187C>T (p.Gln63Ter) rs1663814241
NM_001918.5(DBT):c.196C>T (p.Gln66Ter) rs1663814011
NM_001918.5(DBT):c.209C>A (p.Ser70Ter) rs398123664
NM_001918.5(DBT):c.250T>C (p.Trp84Arg)
NM_001918.5(DBT):c.252-1G>T rs1663522846
NM_001918.5(DBT):c.252-2A>G
NM_001918.5(DBT):c.252-2A>T
NM_001918.5(DBT):c.258_277del (p.Lys87fs) rs1553232197
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.298G>T (p.Glu100Ter) rs1663520073
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.311A>T (p.Asp104Val) rs1553232188
NM_001918.5(DBT):c.325dup (p.Thr109fs)
NM_001918.5(DBT):c.360dup (p.Leu121fs) rs398123668
NM_001918.5(DBT):c.394G>A (p.Gly132Arg)
NM_001918.5(DBT):c.434-1G>A rs754004231
NM_001918.5(DBT):c.434-1G>C
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.505C>T (p.Arg169Ter)
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.511_512insG (p.Thr171fs)
NM_001918.5(DBT):c.511del (p.Thr171fs)
NM_001918.5(DBT):c.535del (p.Arg179fs)
NM_001918.5(DBT):c.555+1G>A rs1553231037
NM_001918.5(DBT):c.567_568del (p.Ser189fs)
NM_001918.5(DBT):c.573del (p.Val192fs)
NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.70C>T (p.Gln24Ter) rs1664173086
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
NM_001918.5(DBT):c.772+1G>C rs2100799417
NM_001918.5(DBT):c.772+2T>G
NM_001918.5(DBT):c.775_778del (p.Phe259fs)
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)
NM_001918.5(DBT):c.820C>A (p.Pro274Thr) rs1310427311
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)
NM_001918.5(DBT):c.917C>G (p.Ser306Cys) rs794727856
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383

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