ClinVar Miner

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

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Gene type:
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Total variants: 82
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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.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 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.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NC_000001.10:g.(?_100652477)_(100661979_100671785)del
NC_000001.10:g.(?_100680363)_(100684318_?)del
NC_000001.11:g.(?_100196235)_(100196442_?)del
NC_000001.11:g.(?_100214807)_(100230924_?)del
NC_000001.11:g.(?_100240751)_(100240894_?)del
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) rs869312132
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)
NM_001918.5(DBT):c.113_114del (p.Cys38fs) rs2100844690
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1195del (p.Ser399fs) rs2100779888
NM_001918.5(DBT):c.1209+1G>A rs1661795778
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) rs2100779419
NM_001918.5(DBT):c.1264dup (p.Ala422fs) rs1401829291
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1281+2T>A rs2100779270
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) rs776490043
NM_001918.5(DBT):c.1324C>T (p.Gln442Ter) rs1276927916
NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer) rs2100761028
NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.17dup (p.Met6fs) rs2100772715
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) rs2100834784
NM_001918.5(DBT):c.247del (p.Glu83fs)
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.261del (p.Glu88fs) rs1570836175
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.304C>T (p.Gln102Ter) rs2100827593
NM_001918.5(DBT):c.311A>G (p.Asp104Gly) rs1553232188
NM_001918.5(DBT):c.363_364del (p.Tyr122fs) rs753574354
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
NM_001918.5(DBT):c.365_366del (p.Tyr122fs) rs2100827350
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.488_489del (p.His163fs) rs760861011
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.516_522del (p.Ala173fs) rs2100804340
NM_001918.5(DBT):c.52-1G>C rs755914063
NM_001918.5(DBT):c.531_537del (p.Arg178fs) rs1372109444
NM_001918.5(DBT):c.555dup (p.Ile186fs)
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.639del (p.Gly214fs)
NM_001918.5(DBT):c.650dup (p.Leu217fs)
NM_001918.5(DBT):c.663_670del (p.Lys222fs) rs748851630
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.762del (p.Glu254fs) rs2100799447
NM_001918.5(DBT):c.783del (p.Ala262fs)
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.799_800del (p.Met267fs)
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
NM_001918.5(DBT):c.910_919del (p.Lys304fs) rs2100797119
NM_001918.5(DBT):c.916T>C (p.Ser306Pro) rs2100797134
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_001918.5(DBT):c.961_962del (p.Gln321fs) rs2100788460

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