ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 311
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001918.5(DBT):c.*8983dup rs67820832 0.02408
NM_001918.5(DBT):c.*8607G>A rs150241889 0.01296
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_001918.5(DBT):c.*4273C>A rs12568926 0.00074
NM_001918.5(DBT):c.*5969C>T rs141483625 0.00055
NM_001918.5(DBT):c.*7307G>C rs182980145 0.00051
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_001918.5(DBT):c.*6716C>G rs529415312 0.00033
NM_001918.5(DBT):c.*7698C>T rs185528579 0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_001918.5(DBT):c.964T>C (p.Phe322Leu) rs148571335 0.00022
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_001918.5(DBT):c.318T>G (p.Ala106=) rs146259768 0.00011
NM_001918.5(DBT):c.556-7T>C rs755448648 0.00009
NM_001918.5(DBT):c.733C>A (p.Pro245Thr) rs200339376 0.00006
NM_001918.5(DBT):c.90T>C (p.His30=) rs377306925 0.00006
NM_001918.5(DBT):c.9A>G (p.Ala3=) rs772869478 0.00006
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln) rs142160613 0.00004
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00004
NM_001918.5(DBT):c.27C>G (p.Thr9=) rs371418997 0.00004
NM_001918.5(DBT):c.536G>A (p.Arg179His) rs766629953 0.00004
NM_001918.5(DBT):c.562C>T (p.Leu188=) rs370323452 0.00004
NM_001918.5(DBT):c.773-17A>C rs144978854 0.00004
NM_001918.5(DBT):c.978C>T (p.Asn326=) rs140659494 0.00004
NM_001918.5(DBT):c.1017+9T>C rs773457541 0.00002
NM_001918.5(DBT):c.1210-11_1210-9del rs1557944011 0.00002
NM_001918.5(DBT):c.1269T>C (p.Leu423=) rs760929997 0.00002
NM_001918.5(DBT):c.15T>C (p.Arg5=) rs773817425 0.00002
NM_001918.5(DBT):c.175+9G>A rs779334816 0.00002
NM_001918.5(DBT):c.176-10del rs745672858 0.00002
NM_001918.5(DBT):c.176-15C>A rs762049483 0.00002
NM_001918.5(DBT):c.434-5A>C rs374530437 0.00002
NM_001918.5(DBT):c.62G>A (p.Arg21His) rs533707792 0.00002
NM_001918.5(DBT):c.1017+8A>G rs541924732 0.00001
NM_001918.5(DBT):c.1018-10T>A rs1328647470 0.00001
NM_001918.5(DBT):c.1110C>T (p.Ile370=) rs771962372 0.00001
NM_001918.5(DBT):c.1138T>C (p.Leu380=) rs756606257 0.00001
NM_001918.5(DBT):c.1158C>T (p.Leu386=) rs139943180 0.00001
NM_001918.5(DBT):c.1173T>G (p.Leu391=) rs763246178 0.00001
NM_001918.5(DBT):c.1210-18_1210-9del rs780660910 0.00001
NM_001918.5(DBT):c.1320G>A (p.Lys440=) rs1243840387 0.00001
NM_001918.5(DBT):c.1350T>G (p.Ala450=) rs149959750 0.00001
NM_001918.5(DBT):c.1371T>C (p.Gly457=) rs1188716932 0.00001
NM_001918.5(DBT):c.1392C>T (p.Ser464=) rs765967170 0.00001
NM_001918.5(DBT):c.176-4G>A rs769021966 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001918.5(DBT):c.231A>G (p.Arg77=) rs1028461413 0.00001
NM_001918.5(DBT):c.270T>C (p.Asp90=) rs913574975 0.00001
NM_001918.5(DBT):c.378C>T (p.Asp126=) rs1410915223 0.00001
NM_001918.5(DBT):c.387C>T (p.Ala129=) rs200503541 0.00001
NM_001918.5(DBT):c.420G>A (p.Thr140=) rs771792232 0.00001
NM_001918.5(DBT):c.42G>A (p.Ala14=) rs758610837 0.00001
NM_001918.5(DBT):c.495G>A (p.Glu165=) rs1481747202 0.00001
NM_001918.5(DBT):c.52-5del rs1234151678 0.00001
NM_001918.5(DBT):c.624T>C (p.Tyr208=) rs752504160 0.00001
NM_001918.5(DBT):c.765C>T (p.Pro255=) rs767126022 0.00001
NM_001918.5(DBT):c.772+7A>T rs904010521 0.00001
NM_001918.5(DBT):c.837T>C (p.Cys279=) rs1662392437 0.00001
NM_001918.5(DBT):c.939+9C>T rs779947502 0.00001
NM_001918.5(DBT):c.*2619G>A rs541064624
NM_001918.5(DBT):c.*2633AAAT[7] rs773873766
NM_001918.5(DBT):c.*3869del rs141830881
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
NM_001918.5(DBT):c.1017+10G>A
NM_001918.5(DBT):c.1017+11C>G
NM_001918.5(DBT):c.1017+15G>A
NM_001918.5(DBT):c.1017+16T>A
NM_001918.5(DBT):c.1018-15T>C
NM_001918.5(DBT):c.1018-16A>T
NM_001918.5(DBT):c.1018-17A>G
NM_001918.5(DBT):c.1018-4T>C
NM_001918.5(DBT):c.1018-7T>G rs2100780347
NM_001918.5(DBT):c.1018-9A>G rs2100780356
NM_001918.5(DBT):c.1018-9del rs2100780359
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
NM_001918.5(DBT):c.1056G>A (p.Gln352=) rs2100780252
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
NM_001918.5(DBT):c.1068C>T (p.Val356=)
NM_001918.5(DBT):c.1077G>A (p.Val359=)
NM_001918.5(DBT):c.1089G>A (p.Gln363=) rs2100780197
NM_001918.5(DBT):c.1098T>G (p.Ser366=) rs1422504862
NM_001918.5(DBT):c.1107C>T (p.Asp369=) rs2100780132
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
NM_001918.5(DBT):c.1131C>T (p.Leu377=) rs1661802261
NM_001918.5(DBT):c.1140G>A (p.Leu380=) rs2100780071
NM_001918.5(DBT):c.1152T>C (p.Ser384=) rs2100780004
NM_001918.5(DBT):c.1158C>G (p.Leu386=) rs139943180
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
NM_001918.5(DBT):c.1191T>A (p.Thr397=) rs2100779891
NM_001918.5(DBT):c.1191T>C (p.Thr397=) rs2100779891
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
NM_001918.5(DBT):c.1209+9T>C
NM_001918.5(DBT):c.1209+9_1209+10dup
NM_001918.5(DBT):c.120T>C (p.Phe40=)
NM_001918.5(DBT):c.1210-12T>A
NM_001918.5(DBT):c.1210-12T>G
NM_001918.5(DBT):c.1210-8_1210-7insT
NM_001918.5(DBT):c.1210-9_1210-8insTT
NM_001918.5(DBT):c.1210-9_1210-8inv
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
NM_001918.5(DBT):c.123T>C (p.Gly41=) rs2100844658
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
NM_001918.5(DBT):c.1248T>C (p.Pro416=) rs2100779369
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
NM_001918.5(DBT):c.1275A>G (p.Ser425=) rs1570806049
NM_001918.5(DBT):c.1281+10T>C rs2100779244
NM_001918.5(DBT):c.1281+13G>A
NM_001918.5(DBT):c.1281+18C>T
NM_001918.5(DBT):c.1281+8_1281+20del
NM_001918.5(DBT):c.1281+9A>G
NM_001918.5(DBT):c.1282-10_1282-9dup
NM_001918.5(DBT):c.1282-11_1282-9del
NM_001918.5(DBT):c.1282-12_1282-9del rs1557939390
NM_001918.5(DBT):c.1282-13T>A rs1374973220
NM_001918.5(DBT):c.1282-13T>C
NM_001918.5(DBT):c.1282-14T>A rs1315625069
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1282-15T>A rs763988935
NM_001918.5(DBT):c.1282-15_1282-9del rs1557939402
NM_001918.5(DBT):c.1282-16T>A
NM_001918.5(DBT):c.1282-16T>C
NM_001918.5(DBT):c.1282-16_1282-9del
NM_001918.5(DBT):c.1282-18T>C
NM_001918.5(DBT):c.1282-19T>C
NM_001918.5(DBT):c.1282-20T>C
NM_001918.5(DBT):c.1282-20_1282-10del rs752915898
NM_001918.5(DBT):c.1282-21_1282-10del rs752915898
NM_001918.5(DBT):c.1282-21_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-22_1282-10del
NM_001918.5(DBT):c.1282-23_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10del rs752915898
NM_001918.5(DBT):c.1282-25_1282-10del rs752915898
NM_001918.5(DBT):c.1282-26_1282-10del rs752915898
NM_001918.5(DBT):c.1282-4C>A rs1410431336
NM_001918.5(DBT):c.1282-4C>T rs1410431336
NM_001918.5(DBT):c.1282-7T>C
NM_001918.5(DBT):c.1282-8A>G rs764781766
NM_001918.5(DBT):c.1282-9C>A rs1404199687
NM_001918.5(DBT):c.1282-9dup
NM_001918.5(DBT):c.129T>G (p.Pro43=)
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888
NM_001918.5(DBT):c.1314A>G (p.Val438=)
NM_001918.5(DBT):c.1317T>C (p.Tyr439=) rs2100761130
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
NM_001918.5(DBT):c.1383A>C (p.Ser461=) rs2100760925
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001918.5(DBT):c.138G>A (p.Lys46=)
NM_001918.5(DBT):c.1398G>A (p.Leu466=) rs1661085210
NM_001918.5(DBT):c.1407C>G (p.Ser469=) rs2100760846
NM_001918.5(DBT):c.1410T>C (p.Tyr470=) rs2100760833
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
NM_001918.5(DBT):c.159C>T (p.Phe53=) rs772209054
NM_001918.5(DBT):c.175+10A>G
NM_001918.5(DBT):c.175+16A>G
NM_001918.5(DBT):c.175+7A>T
NM_001918.5(DBT):c.176-15C>G
NM_001918.5(DBT):c.176-15C>T
NM_001918.5(DBT):c.207C>G (p.Leu69=)
NM_001918.5(DBT):c.207C>T (p.Leu69=)
NM_001918.5(DBT):c.225G>A (p.Gly75=) rs2100834832
NM_001918.5(DBT):c.228T>C (p.Ile76=)
NM_001918.5(DBT):c.243T>G (p.Val81=)
NM_001918.5(DBT):c.246A>G (p.Lys82=)
NM_001918.5(DBT):c.251+15A>G
NM_001918.5(DBT):c.251+17A>G
NM_001918.5(DBT):c.251+18A>G
NM_001918.5(DBT):c.251+8A>T
NM_001918.5(DBT):c.251+9A>G
NM_001918.5(DBT):c.252-12T>G
NM_001918.5(DBT):c.252-8T>C rs2100827755
NM_001918.5(DBT):c.258A>G (p.Val86=)
NM_001918.5(DBT):c.264A>G (p.Glu88=) rs1557956728
NM_001918.5(DBT):c.273A>C (p.Thr91=) rs2100827682
NM_001918.5(DBT):c.273A>G (p.Thr91=)
NM_001918.5(DBT):c.282G>A (p.Gln94=) rs2100827660
NM_001918.5(DBT):c.288T>C (p.Asp96=)
NM_001918.5(DBT):c.300A>G (p.Glu100=) rs772023545
NM_001918.5(DBT):c.321T>A (p.Ser107=)
NM_001918.5(DBT):c.333T>C (p.Thr111=)
NM_001918.5(DBT):c.336T>C (p.Ser112=) rs1254104594
NM_001918.5(DBT):c.342T>C (p.Tyr114=) rs1207748719
NM_001918.5(DBT):c.351C>T (p.Val117=) rs767953425
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
NM_001918.5(DBT):c.369T>C (p.Tyr123=) rs2100827345
NM_001918.5(DBT):c.36G>A (p.Arg12=) rs147775797
NM_001918.5(DBT):c.384T>C (p.Ile128=) rs918466852
NM_001918.5(DBT):c.39T>C (p.Asn13=) rs1431500513
NM_001918.5(DBT):c.408A>G (p.Val136=) rs528365976
NM_001918.5(DBT):c.427T>C (p.Leu143=) rs2100827179
NM_001918.5(DBT):c.42G>C (p.Ala14=)
NM_001918.5(DBT):c.42G>T (p.Ala14=) rs758610837
NM_001918.5(DBT):c.433+10G>A rs1024314250
NM_001918.5(DBT):c.433+10G>C rs1024314250
NM_001918.5(DBT):c.433+13T>G
NM_001918.5(DBT):c.433+17A>C
NM_001918.5(DBT):c.433+7dup rs2100827150
NM_001918.5(DBT):c.434-11C>T
NM_001918.5(DBT):c.434-14T>C
NM_001918.5(DBT):c.434-17T>G
NM_001918.5(DBT):c.434-4C>T
NM_001918.5(DBT):c.465A>C (p.Ala155=)
NM_001918.5(DBT):c.474T>C (p.His158=) rs2100804457
NM_001918.5(DBT):c.480A>G (p.Glu160=)
NM_001918.5(DBT):c.483T>C (p.His161=) rs2100804431
NM_001918.5(DBT):c.501G>A (p.Lys167=)
NM_001918.5(DBT):c.51+11T>C
NM_001918.5(DBT):c.51+13_51+14insT
NM_001918.5(DBT):c.51+14G>C
NM_001918.5(DBT):c.51+18G>C
NM_001918.5(DBT):c.51+18G>T
NM_001918.5(DBT):c.51+7A>G
NM_001918.5(DBT):c.510A>G (p.Lys170=) rs1570820389
NM_001918.5(DBT):c.514C>T (p.Leu172=) rs1344704881
NM_001918.5(DBT):c.52-10T>G
NM_001918.5(DBT):c.52-18T>G rs1052822218
NM_001918.5(DBT):c.52-48_52-45delinsTAC rs1553233176
NM_001918.5(DBT):c.52-4G>A rs2100844854
NM_001918.5(DBT):c.52-5T>C
NM_001918.5(DBT):c.52-6del rs2100844868
NM_001918.5(DBT):c.52-9C>T
NM_001918.5(DBT):c.528A>G (p.Ala176=)
NM_001918.5(DBT):c.537T>C (p.Arg179=)
NM_001918.5(DBT):c.549A>G (p.Glu183=) rs2100804264
NM_001918.5(DBT):c.54T>C (p.Ile18=) rs1171616529
NM_001918.5(DBT):c.555+8C>A rs548611008
NM_001918.5(DBT):c.555+8C>T
NM_001918.5(DBT):c.556-12A>G
NM_001918.5(DBT):c.556-14A>G
NM_001918.5(DBT):c.556-5T>C
NM_001918.5(DBT):c.576T>C (p.Val192=)
NM_001918.5(DBT):c.579C>T (p.Gly193=)
NM_001918.5(DBT):c.630A>G (p.Glu210=)
NM_001918.5(DBT):c.63C>G (p.Arg21=)
NM_001918.5(DBT):c.641_643del (p.Gly214del) rs1553230840
NM_001918.5(DBT):c.642A>C (p.Gly214=)
NM_001918.5(DBT):c.645T>G (p.Ala215=)
NM_001918.5(DBT):c.663C>T (p.Pro221=) rs1662468729
NM_001918.5(DBT):c.666A>G (p.Lys222=)
NM_001918.5(DBT):c.696A>G (p.Pro232=) rs2100799691
NM_001918.5(DBT):c.6T>A (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.6T>G (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.702C>T (p.Asp234=)
NM_001918.5(DBT):c.714T>C (p.Pro238=)
NM_001918.5(DBT):c.735G>A (p.Pro245=)
NM_001918.5(DBT):c.741C>T (p.Phe247=)
NM_001918.5(DBT):c.744A>C (p.Thr248=) rs765082016
NM_001918.5(DBT):c.747C>G (p.Gly249=) rs200612682
NM_001918.5(DBT):c.75A>T (p.Thr25=)
NM_001918.5(DBT):c.772+11T>C
NM_001918.5(DBT):c.772+17C>G
NM_001918.5(DBT):c.772+17_772+19del
NM_001918.5(DBT):c.772+19A>G
NM_001918.5(DBT):c.772+7A>G
NM_001918.5(DBT):c.772+8T>C
NM_001918.5(DBT):c.772+8TAA[2]
NM_001918.5(DBT):c.772+9A>G rs2100799392
NM_001918.5(DBT):c.773-14T>G
NM_001918.5(DBT):c.773-4T>C
NM_001918.5(DBT):c.792C>G (p.Val264=) rs2100797477
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
NM_001918.5(DBT):c.804T>A (p.Ser268=) rs1283378890
NM_001918.5(DBT):c.804T>C (p.Ser268=) rs1283378890
NM_001918.5(DBT):c.813G>A (p.Leu271=)
NM_001918.5(DBT):c.831T>C (p.Gly277=) rs2100797397
NM_001918.5(DBT):c.834T>C (p.Tyr278=) rs2100797369
NM_001918.5(DBT):c.849C>T (p.Asp283=)
NM_001918.5(DBT):c.84T>C (p.Asn28=)
NM_001918.5(DBT):c.855T>C (p.Thr285=)
NM_001918.5(DBT):c.861G>A (p.Leu287=)
NM_001918.5(DBT):c.870C>T (p.Leu290=)
NM_001918.5(DBT):c.876A>G (p.Glu292=)
NM_001918.5(DBT):c.87T>A (p.Val29=) rs2100844766
NM_001918.5(DBT):c.891T>C (p.Ile297=) rs1184322880
NM_001918.5(DBT):c.894A>C (p.Ala298=)
NM_001918.5(DBT):c.897T>C (p.Phe299=) rs2100797177
NM_001918.5(DBT):c.903T>C (p.Arg301=)
NM_001918.5(DBT):c.915C>T (p.Leu305=) rs2100797139
NM_001918.5(DBT):c.933C>T (p.Phe311=) rs2100797103
NM_001918.5(DBT):c.936A>G (p.Leu312=)
NM_001918.5(DBT):c.939+10A>G rs1450707467
NM_001918.5(DBT):c.939+13C>G
NM_001918.5(DBT):c.939+7T>C
NM_001918.5(DBT):c.940-10T>C rs1306548973
NM_001918.5(DBT):c.940-17C>A
NM_001918.5(DBT):c.940-18T>G rs2100788572
NM_001918.5(DBT):c.940-4A>C
NM_001918.5(DBT):c.940-5A>C rs1296647053
NM_001918.5(DBT):c.940-7T>C rs2100788531
NM_001918.5(DBT):c.940-7del rs2100788542
NM_001918.5(DBT):c.940-9G>T
NM_001918.5(DBT):c.945T>C (p.Ala315=) rs2100788485
NM_001918.5(DBT):c.960A>G (p.Leu320=) rs2100788475
NM_001918.5(DBT):c.963G>A (p.Gln321=) rs762063921
NM_001918.5(DBT):c.990T>C (p.Asp330=) rs2100788342
NM_001918.5(DBT):c.99G>A (p.Lys33=) rs2100844736
NM_001918.5(DBT):c.9A>T (p.Ala3=) rs772869478

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