ClinVar Miner

List of variants in gene DLL3 studied for autosomal recessive disease

Included ClinVar conditions (1300):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.653T>C (p.Leu218Pro) rs1110627 0.59676
NM_203486.3(DLL3):c.352-18C>G rs2304223 0.29309
NM_203486.3(DLL3):c.1029C>T (p.Pro343=) rs2304214 0.27957
NM_203486.3(DLL3):c.1152G>A (p.Ala384=) rs115456333 0.01391
NM_203486.3(DLL3):c.1674-10C>T rs116099821 0.00950
NM_203486.3(DLL3):c.674G>A (p.Ser225Asn) rs35380611 0.00675
NM_203486.3(DLL3):c.1143C>T (p.Ala381=) rs367573123 0.00458
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962 0.00445
NM_203486.3(DLL3):c.409+61G>A rs377405105 0.00367
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00130
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu) rs758148689 0.00050
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00049
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg) rs139297205 0.00046
NM_203486.3(DLL3):c.1759-31C>G rs200669115 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) rs142597040 0.00029
NM_203486.3(DLL3):c.1759-53A>G rs762786941 0.00028
NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp) rs146274789 0.00026
NM_203486.3(DLL3):c.1758+57C>T rs147582946 0.00024
NM_203486.3(DLL3):c.*38A>G rs200982994 0.00023
NM_203486.3(DLL3):c.1759-162A>G rs886054434 0.00021
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe) rs572290101 0.00017
NM_203486.3(DLL3):c.939G>A (p.Gly313=) rs150100958 0.00017
NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) rs781688970 0.00014
NM_203486.3(DLL3):c.870+12C>G rs180859782 0.00011
NM_203486.3(DLL3):c.1123C>T (p.Leu375=) rs777253263 0.00009
NM_203486.3(DLL3):c.286G>A (p.Ala96Thr) rs546600885 0.00009
NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) rs773460228 0.00008
NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) rs530857183 0.00006
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn) rs376526613 0.00006
NM_203486.3(DLL3):c.1302C>T (p.Ala434=) rs750457185 0.00005
NM_203486.3(DLL3):c.969C>T (p.Asn323=) rs139638161 0.00005
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00005
NM_203486.3(DLL3):c.409+19G>T rs201227250 0.00004
NM_203486.3(DLL3):c.915C>T (p.Tyr305=) rs372702131 0.00004
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) rs786205519 0.00003
NM_203486.3(DLL3):c.1187C>T (p.Ala396Val) rs747708804 0.00002
NM_203486.3(DLL3):c.1455C>T (p.Pro485=) rs759560622 0.00002
NM_203486.3(DLL3):c.1474C>G (p.Leu492Val) rs767423604 0.00002
NM_203486.3(DLL3):c.1758+20C>G rs778339882 0.00002
NM_203486.3(DLL3):c.902C>T (p.Pro301Leu) rs781626135 0.00002
NM_203486.3(DLL3):c.1036C>T (p.Gln346Ter) rs752277223 0.00001
NM_203486.3(DLL3):c.1101C>T (p.Leu367=) rs1434611786 0.00001
NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys) rs765517369 0.00001
NM_203486.3(DLL3):c.1140C>G (p.Arg380=) rs934368057 0.00001
NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg) rs985766992 0.00001
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) rs71647811 0.00001
NM_203486.3(DLL3):c.409+6T>C rs995675341 0.00001
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) rs104894675 0.00001
NM_203486.3(DLL3):c.779C>A (p.Pro260His) rs748649010 0.00001
NM_203486.3(DLL3):c.933G>A (p.Val311=) rs760420806 0.00001
NM_203486.3(DLL3):c.1123C>G (p.Leu375Val) rs777253263
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) rs104894674
NM_203486.3(DLL3):c.128del (p.Pro43fs)
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser) rs888371213
NM_203486.3(DLL3):c.1339_1340insT (p.His447fs) rs2514649158
NM_203486.3(DLL3):c.1362T>C (p.Ala454=) rs768998068
NM_203486.3(DLL3):c.1378A>G (p.Met460Val) rs766274162
NM_203486.3(DLL3):c.1383A>C (p.Gly461=) rs886054433
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu) rs777442783
NM_203486.3(DLL3):c.1440del (p.Pro481fs) rs786200903
NM_203486.3(DLL3):c.1441_1459del (p.Pro481fs)
NM_203486.3(DLL3):c.1674-9C>T rs2079653502
NM_203486.3(DLL3):c.1759-97G>T rs569619393
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala) rs1600751637
NM_203486.3(DLL3):c.241del (p.Ala81fs)
NM_203486.3(DLL3):c.366_378del (p.Ile123fs) rs2079604821
NM_203486.3(DLL3):c.367A>G (p.Ile123Val) rs1568448479
NM_203486.3(DLL3):c.395del (p.Gly132fs) rs761454301
NM_203486.3(DLL3):c.654G>A (p.Leu218=) rs140489087
NM_203486.3(DLL3):c.870+3C>T rs377288340
NM_203486.3(DLL3):c.871-1G>A rs2144761828
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254

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.