ClinVar Miner

List of variants in gene DBT studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001918.5(DBT):c.433+300T>G rs6681747 0.78647
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_001918.5(DBT):c.1018-840T>C rs7541105 0.76794
NC_000001.11:g.100250192C>G rs3806236 0.75177
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_001918.5(DBT):c.555+276C>A rs6577158 0.74259
NC_000001.11:g.100249898G>A rs3806235 0.71224
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NC_000001.11:g.100186848C>T rs4364901 0.05990
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_001918.5(DBT):c.251+197T>C rs17122062 0.04194
NM_001918.5(DBT):c.434-284T>G rs72973768 0.03898
NC_000001.11:g.100250019A>T rs75989770 0.03691
NM_001918.5(DBT):c.773-232T>A rs72973760 0.03453
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_001918.5(DBT):c.1281+273A>G rs116767333 0.02690
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_001918.5(DBT):c.251+105A>T rs151132097 0.01958
NM_001918.5(DBT):c.1018-157C>A rs114413482 0.01266
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001918.5(DBT):c.1018-743G>A rs74321712 0.01005
NM_001918.5(DBT):c.175+312T>C rs79295393 0.00969
NM_001918.5(DBT):c.51+185A>G rs3131838 0.00961
NC_000001.11:g.100249909G>C rs41287254 0.00886
NM_001918.5(DBT):c.1281+248G>A rs146214677 0.00873
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.1018-464A>G rs76174317 0.00861
NM_001918.5(DBT):c.555+96A>G rs149618173 0.00612
NM_001918.5(DBT):c.51+202G>C rs79737399 0.00539
NM_001918.5(DBT):c.*389A>G rs142589460 0.00374
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.175+37G>A rs76902654 0.00154
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
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.556-7T>C rs755448648 0.00009
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_001918.5(DBT):c.52-27T>A rs202047153 0.00006
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001918.5(DBT):c.1024C>T (p.His342Tyr) rs398123655 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 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.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.51+5G>C rs398123670 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 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
GRCh37/hg19 1p21.2(chr1:100680373-100684303)x0
GRCh37/hg19 1p21.2(chr1:100680373-100684304)x0
NC_000001.11:g.100186848_100186849insACACAT rs77858678
NC_000001.11:g.100186848_100186849insACAT rs77858678
NC_000001.11:g.100186848_100186849insAT rs77858678
NM_001918.5(DBT):c.*1916dup rs745306619
NM_001918.5(DBT):c.*2633AAAT[7] rs773873766
NM_001918.5(DBT):c.*4448GT[19] rs1161001732
NM_001918.5(DBT):c.*4478_*4507del rs1287487948
NM_001918.5(DBT):c.*4480_*4507del rs140341302
NM_001918.5(DBT):c.*4482_*4507del rs1418854977
NM_001918.5(DBT):c.*6114_*6115del rs3081711
NM_001918.5(DBT):c.*6902_*6903del rs71709231
NM_001918.5(DBT):c.*6903del rs71709231
NM_001918.5(DBT):c.*7679_*7681dup rs145958213
NM_001918.5(DBT):c.*8554del rs886044938
NM_001918.5(DBT):c.*8554dup rs886044938
NM_001918.5(DBT):c.1024C>G (p.His342Asp) rs398123655
NM_001918.5(DBT):c.1096T>C (p.Ser366Pro) rs398123656
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1133A>C (p.Gln378Pro) rs398123657
NM_001918.5(DBT):c.1133A>G (p.Gln378Arg) rs398123657
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1210-11_1210-10inv
NM_001918.5(DBT):c.1258A>G (p.Ile420Val) rs398123659
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1281+140dup rs35150096
NM_001918.5(DBT):c.1281+156_1281+157del rs35150096
NM_001918.5(DBT):c.1281+157del rs35150096
NM_001918.5(DBT):c.1282-11_1282-5del rs750402853
NM_001918.5(DBT):c.1282-13_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-14_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-15_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-23_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-4C>A rs1410431336
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) rs776490043
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.137A>G (p.Lys46Arg) rs794727263
NM_001918.5(DBT):c.1447T>C (p.Ter483Arg) rs398123663
NM_001918.5(DBT):c.209C>T (p.Ser70Leu) rs398123664
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.433+92dup rs11394110
NM_001918.5(DBT):c.434-186del rs55792733
NM_001918.5(DBT):c.434-187_434-186del rs55792733
NM_001918.5(DBT):c.434-196dup rs55792733
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.535C>T (p.Arg179Cys)
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.731del (p.Pro244fs) rs1064795955
NM_001918.5(DBT):c.773-2A>G rs398123674
NM_001918.5(DBT):c.773-68dup rs11431894
NM_001918.5(DBT):c.917C>G (p.Ser306Cys) rs794727856

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.