ClinVar Miner

List of variants in gene DBT reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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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.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.1210-10T>A rs183058253 0.04736
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.715A>G (p.Ile239Val) rs72973763 0.03442
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.506G>A (p.Arg169Gln) rs34267966 0.00341
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.291C>T (p.Ser97=) rs201318480 0.00005
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00004
NM_001918.5(DBT):c.252-13C>G rs1057521505 0.00003
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.433+18A>G rs1057524189 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
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.1209+17A>C rs1553229652
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.1210-4del rs201117345
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.1292G>C (p.Arg431Pro) rs776490043
NM_001918.5(DBT):c.251+19dup rs201469612
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.6T>A (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.731del (p.Pro244fs) rs1064795955
NM_001918.5(DBT):c.773-68dup rs11431894

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