ClinVar Miner

List of variants in gene LMBRD1 reported as likely benign for nutritional deficiency disease

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00032
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055 0.00027
NM_018368.4(LMBRD1):c.981-8T>A rs760419494 0.00020
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00019
NM_018368.4(LMBRD1):c.1189-15C>G rs774156278 0.00011
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874 0.00009
NM_018368.4(LMBRD1):c.405+8T>C rs375415974 0.00009
NM_018368.4(LMBRD1):c.406-6A>C rs373257303 0.00009
NM_018368.4(LMBRD1):c.915+19A>G rs373780058 0.00009
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044 0.00008
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_018368.4(LMBRD1):c.69+11C>T rs746889908 0.00007
NM_018368.4(LMBRD1):c.637-13G>A rs776621535 0.00006
NM_018368.4(LMBRD1):c.473+11A>T rs79885422 0.00005
NM_018368.4(LMBRD1):c.474-20A>G rs952976480 0.00005
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=) rs765715433 0.00004
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824 0.00004
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=) rs751525924 0.00004
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513 0.00004
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=) rs139154326 0.00004
NM_018368.4(LMBRD1):c.562+19A>T rs200488577 0.00004
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=) rs766287809 0.00004
NM_018368.4(LMBRD1):c.1189-4C>G rs199650812 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018368.4(LMBRD1):c.563-19A>G rs201467930 0.00003
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=) rs746951251 0.00003
NM_018368.4(LMBRD1):c.1083+16A>G rs778907355 0.00002
NM_018368.4(LMBRD1):c.1188+7A>T rs375681915 0.00002
NM_018368.4(LMBRD1):c.1418-16T>C rs753105951 0.00002
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=) rs944285630 0.00002
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=) rs368494826 0.00002
NM_018368.4(LMBRD1):c.405+19G>C rs978543962 0.00002
NM_018368.4(LMBRD1):c.981-10T>A rs1284313337 0.00002
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=) rs1766129690 0.00001
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=) rs558926049 0.00001
NM_018368.4(LMBRD1):c.1084-3dup rs751817244 0.00001
NM_018368.4(LMBRD1):c.1188+10T>A rs1183346325 0.00001
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=) rs1489571655 0.00001
NM_018368.4(LMBRD1):c.1339-18T>A rs765143100 0.00001
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=) rs745552519 0.00001
NM_018368.4(LMBRD1):c.1417+9A>G rs763882735 0.00001
NM_018368.4(LMBRD1):c.1418-14A>G rs550289200 0.00001
NM_018368.4(LMBRD1):c.1418-20T>A rs758519179 0.00001
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=) rs561314652 0.00001
NM_018368.4(LMBRD1):c.1509+13A>G rs1485623826 0.00001
NM_018368.4(LMBRD1):c.1510-19G>A rs1484305691 0.00001
NM_018368.4(LMBRD1):c.1510-4A>G rs749367951 0.00001
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770 0.00001
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=) rs767220229 0.00001
NM_018368.4(LMBRD1):c.247-13C>A rs1765809079 0.00001
NM_018368.4(LMBRD1):c.247-20A>G rs762894069 0.00001
NM_018368.4(LMBRD1):c.247-4C>T rs1321930777 0.00001
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=) rs571184918 0.00001
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942 0.00001
NM_018368.4(LMBRD1):c.307+13C>T rs370206291 0.00001
NM_018368.4(LMBRD1):c.308-17A>G rs781348487 0.00001
NM_018368.4(LMBRD1):c.308-6C>T rs1765177078 0.00001
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=) rs1765176011 0.00001
NM_018368.4(LMBRD1):c.405+17T>A rs978789765 0.00001
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=) rs762039839 0.00001
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=) rs764620305 0.00001
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=) rs1324208265 0.00001
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=) rs1284949506 0.00001
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=) rs1249071333 0.00001
NM_018368.4(LMBRD1):c.473+10G>C rs762181370 0.00001
NM_018368.4(LMBRD1):c.474-6T>C rs1441528169 0.00001
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=) rs1198975552 0.00001
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=) rs1246042674 0.00001
NM_018368.4(LMBRD1):c.637-15T>C rs936817274 0.00001
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=) rs1181531198 0.00001
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=) rs1766556192 0.00001
NM_018368.4(LMBRD1):c.69+10G>T rs375763446 0.00001
NM_018368.4(LMBRD1):c.69+8dup rs1288012913 0.00001
NM_018368.4(LMBRD1):c.69+9G>A rs776423763 0.00001
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=) rs753043203 0.00001
NM_018368.4(LMBRD1):c.70-20C>G rs1433493875 0.00001
NM_018368.4(LMBRD1):c.762+11G>A rs775270166 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00001
NM_018368.4(LMBRD1):c.915+18A>T rs1766428985 0.00001
NM_018368.4(LMBRD1):c.916-13T>C rs955145103 0.00001
NM_018368.4(LMBRD1):c.980+10G>A rs749818863 0.00001
NM_018368.4(LMBRD1):c.980+14A>G rs899200280 0.00001
NM_018368.4(LMBRD1):c.981-17T>C rs756762965 0.00001
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=) rs1467317157 0.00001
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.1075C>T (p.Leu359=)
NM_018368.4(LMBRD1):c.1083+11_1083+14del rs2149844855
NM_018368.4(LMBRD1):c.1083+12A>T rs2482223731
NM_018368.4(LMBRD1):c.1083+15A>C rs1476384561
NM_018368.4(LMBRD1):c.1084-12dup rs757172535
NM_018368.4(LMBRD1):c.1084-16C>A rs1412210557
NM_018368.4(LMBRD1):c.1084-16C>T rs1412210557
NM_018368.4(LMBRD1):c.1084-20A>G rs767318950
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=) rs2482221412
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=) rs2482221405
NM_018368.4(LMBRD1):c.1140T>G (p.Thr380=)
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=) rs1433743989
NM_018368.4(LMBRD1):c.1185T>A (p.Ile395=)
NM_018368.4(LMBRD1):c.1188+16A>G rs2482221033
NM_018368.4(LMBRD1):c.1189-12T>G rs2482217158
NM_018368.4(LMBRD1):c.1189-13C>T rs1416345665
NM_018368.4(LMBRD1):c.1189-17C>T rs377239188
NM_018368.4(LMBRD1):c.1189-19G>C rs767672251
NM_018368.4(LMBRD1):c.1189-4C>T rs199650812
NM_018368.4(LMBRD1):c.1189-8C>A rs770654585
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=) rs773277511
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=) rs2481486272
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=) rs1402550503
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=) rs1766072200
NM_018368.4(LMBRD1):c.1230C>G (p.Leu410=)
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=) rs2482216888
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=) rs2149843476
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=) rs902237667
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=) rs2482216643
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=) rs2482216534
NM_018368.4(LMBRD1):c.1339-12T>G rs931474283
NM_018368.4(LMBRD1):c.1339-8T>C rs2482213062
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=) rs2482213008
NM_018368.4(LMBRD1):c.135C>T (p.Val45=) rs1344639808
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=) rs2482212811
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=) rs2482212715
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=) rs1382933312
NM_018368.4(LMBRD1):c.1417+12T>C rs2482212363
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=) rs1389466957
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=) rs1179148918
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=) rs2482154933
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=) rs1765548296
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=) rs2482154831
NM_018368.4(LMBRD1):c.1509+12T>C rs2149832420
NM_018368.4(LMBRD1):c.1509+15C>T rs749551154
NM_018368.4(LMBRD1):c.1509+18A>G rs2482154749
NM_018368.4(LMBRD1):c.1509+20G>A rs116095397
NM_018368.4(LMBRD1):c.1509+7G>A rs1330892372
NM_018368.4(LMBRD1):c.1510-11T>C rs2482154188
NM_018368.4(LMBRD1):c.1510-16T>G rs1765543569
NM_018368.4(LMBRD1):c.1510-9A>C rs928713653
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=) rs2482154076
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=) rs1765542313
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=) rs944285630
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=) rs764884534
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=) rs2482153795
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=) rs1196867144
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=) rs771408766
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=) rs1164499549
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=) rs757258526
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=) rs2481485949
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=) rs149650795
NM_018368.4(LMBRD1):c.198G>A (p.Val66=) rs2481485862
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=) rs774355755
NM_018368.4(LMBRD1):c.246+10A>G rs2481485675
NM_018368.4(LMBRD1):c.246+16C>T rs780360361
NM_018368.4(LMBRD1):c.247-11T>G
NM_018368.4(LMBRD1):c.247-14T>A rs1216357242
NM_018368.4(LMBRD1):c.247-17G>A rs772645667
NM_018368.4(LMBRD1):c.247-6T>C rs2481466517
NM_018368.4(LMBRD1):c.247-8T>A rs769329039
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=) rs769952932
NM_018368.4(LMBRD1):c.307+15G>A rs2481466263
NM_018368.4(LMBRD1):c.308-14_308-12del
NM_018368.4(LMBRD1):c.308-5C>T rs2481411396
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=) rs1562112737
NM_018368.4(LMBRD1):c.357C>T (p.Val119=) rs2149877968
NM_018368.4(LMBRD1):c.363C>T (p.Phe121=)
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=) rs200639044
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=) rs2481411020
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=) rs760203552
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=) rs2481410965
NM_018368.4(LMBRD1):c.405+18A>G rs1248356879
NM_018368.4(LMBRD1):c.405+9C>A rs2481410817
NM_018368.4(LMBRD1):c.406-18T>C rs2481403761
NM_018368.4(LMBRD1):c.406-8G>A rs758683230
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=) rs934259733
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=) rs762039839
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=) rs1765071337
NM_018368.4(LMBRD1):c.473+10G>A
NM_018368.4(LMBRD1):c.474-16A>G rs1204499805
NM_018368.4(LMBRD1):c.474-4G>A rs2481386097
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=) rs2481386024
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=) rs2481386024
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=) rs756925338
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=) rs1401268659
NM_018368.4(LMBRD1):c.54C>T (p.Phe18=)
NM_018368.4(LMBRD1):c.562+10G>T rs777443966
NM_018368.4(LMBRD1):c.562+13T>C rs2481385631
NM_018368.4(LMBRD1):c.562+14T>G rs2481385627
NM_018368.4(LMBRD1):c.562+15T>C rs769707477
NM_018368.4(LMBRD1):c.562+7A>G rs2481385659
NM_018368.4(LMBRD1):c.563-10T>G rs1562106013
NM_018368.4(LMBRD1):c.563-11T>C rs1767012664
NM_018368.4(LMBRD1):c.563-15T>A rs2481377776
NM_018368.4(LMBRD1):c.563-18G>A rs1767012797
NM_018368.4(LMBRD1):c.563-19A>C rs201467930
NM_018368.4(LMBRD1):c.563-20_563-19del rs2481377845
NM_018368.4(LMBRD1):c.563-6del rs2481377729
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=) rs2481377599
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=) rs752083711
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=) rs2149901083
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=) rs1356456081
NM_018368.4(LMBRD1):c.636+13G>A rs2481377237
NM_018368.4(LMBRD1):c.636+18A>G rs1767009619
NM_018368.4(LMBRD1):c.636+19A>C rs2481377203
NM_018368.4(LMBRD1):c.636+7G>T rs1431920626
NM_018368.4(LMBRD1):c.637-15T>A rs936817274
NM_018368.4(LMBRD1):c.637-18C>A
NM_018368.4(LMBRD1):c.637-8T>C rs2481339332
NM_018368.4(LMBRD1):c.637-8_637-3del
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=) rs745433737
NM_018368.4(LMBRD1):c.69+11C>G rs746889908
NM_018368.4(LMBRD1):c.69+12G>A rs2481499628
NM_018368.4(LMBRD1):c.69+15T>C rs1265729628
NM_018368.4(LMBRD1):c.69+17G>C rs2481499617
NM_018368.4(LMBRD1):c.69+20T>C rs2481499599
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=) rs753043203
NM_018368.4(LMBRD1):c.70-12G>T
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=) rs758376222
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=) rs1766553330
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=) rs2481486435
NM_018368.4(LMBRD1):c.762+12T>C rs772087947
NM_018368.4(LMBRD1):c.762+15T>C rs2481338718
NM_018368.4(LMBRD1):c.762+7T>G rs1766551983
NM_018368.4(LMBRD1):c.763-10T>C rs904846181
NM_018368.4(LMBRD1):c.763-11G>C rs2481328358
NM_018368.4(LMBRD1):c.763-13C>A rs1384750327
NM_018368.4(LMBRD1):c.763-19T>G rs2481328391
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=) rs2481328078
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=) rs2481327989
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=) rs1290565458
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=) rs2481327838
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=) rs2481327742
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=) rs2481327709
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=) rs1297404290
NM_018368.4(LMBRD1):c.915+16A>G rs2481327629
NM_018368.4(LMBRD1):c.915+16A>T rs2481327629
NM_018368.4(LMBRD1):c.916-16A>G
NM_018368.4(LMBRD1):c.916-7C>T rs754770328
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=) rs201495060
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=) rs763696274
NM_018368.4(LMBRD1):c.980+13G>A rs1451385627
NM_018368.4(LMBRD1):c.980+15C>T rs1044400048
NM_018368.4(LMBRD1):c.981-10T>C rs1284313337
NM_018368.4(LMBRD1):c.981-4T>G rs2482224542
NM_018368.4(LMBRD1):c.981-4_981-3dup rs202207965
NM_018368.4(LMBRD1):c.981-9T>A rs2149844964
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=) rs1582063472
NM_018368.4(LMBRD1):c.9T>G (p.Thr3=)

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