ClinVar Miner

List of variants in gene DES reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 192
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001927.4(DES):c.299A>C (p.Glu100Ala) rs762738069 0.00006
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) rs61368398 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036 0.00003
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) rs142712150 0.00002
NM_001927.4(DES):c.1308G>C (p.Arg436Ser) rs985185092 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090 0.00002
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992 0.00002
NM_001927.4(DES):c.566G>A (p.Arg189Gln) rs1025323214 0.00002
NM_001927.4(DES):c.609A>C (p.Glu203Asp) rs369495436 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001927.4(DES):c.-7C>G rs764966574 0.00001
NM_001927.4(DES):c.1023+6T>G rs1039179103 0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.1047G>A (p.Met349Ile) rs375005961 0.00001
NM_001927.4(DES):c.1050G>A (p.Arg350=) rs769505280 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.1103C>T (p.Ala368Val) rs371830218 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1147C>T (p.Arg383Cys) rs748945548 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1189G>T (p.Ala397Ser) rs727502951 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu) rs1427557970 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) rs397516691 0.00001
NM_001927.4(DES):c.146T>C (p.Val49Ala) rs794728989 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.237G>A (p.Thr79=) rs727503899 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.300G>A (p.Glu100=) rs1339030541 0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285 0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln) rs763769862 0.00001
NM_001927.4(DES):c.524G>A (p.Arg175His) rs878854472 0.00001
NM_001927.4(DES):c.545A>C (p.Asn182Thr) rs1358211194 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.615G>C (p.Glu205Asp) rs1295010624 0.00001
NM_001927.4(DES):c.664C>T (p.Arg222Cys) rs374687448 0.00001
NM_001927.4(DES):c.694C>T (p.Leu232Phe) rs764764823 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.794T>C (p.Met265Thr) rs1457398926 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001927.4(DES):c.91A>T (p.Ser31Cys) rs1553603207 0.00001
NM_001927.4(DES):c.943C>T (p.Arg315Cys) rs748742357 0.00001
NM_001927.4(DES):c.100G>A (p.Val34Met)
NM_001927.4(DES):c.1019G>A (p.Gly340Asp) rs1559353118
NM_001927.4(DES):c.1023+6_1023+24dup
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) rs886044226
NM_001927.4(DES):c.105C>G (p.Phe35Leu) rs768166041
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1078G>T (p.Ala360Ser) rs121913000
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1099A>G (p.Ile367Val) rs62636494
NM_001927.4(DES):c.109C>G (p.Arg37Gly) rs537881554
NM_001927.4(DES):c.1100T>C (p.Ile367Thr) rs1480755998
NM_001927.4(DES):c.1133A>C (p.Lys378Thr) rs202010947
NM_001927.4(DES):c.1157G>A (p.Arg386His) rs1029457073
NM_001927.4(DES):c.1158_1160del (p.Glu387del) rs1559353314
NM_001927.4(DES):c.1167G>T (p.Gln389His) rs794727789
NM_001927.4(DES):c.1172T>C (p.Leu391Pro) rs1954443135
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) rs62636493
NM_001927.4(DES):c.119T>C (p.Phe40Ser)
NM_001927.4(DES):c.1217G>T (p.Arg406Leu) rs1057520275
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) rs751942358
NM_001927.4(DES):c.1245-3T>C
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) rs796667045
NM_001927.4(DES):c.1271C>T (p.Ser424Phe) rs886042791
NM_001927.4(DES):c.1275C>T (p.Ala425=) rs1553603739
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1297C>T (p.Pro433Ser)
NM_001927.4(DES):c.1322A>T (p.His441Leu) rs1064796937
NM_001927.4(DES):c.1324A>G (p.Thr442Ala) rs794728995
NM_001927.4(DES):c.1342A>G (p.Ile448Val)
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1364A>T (p.Asp455Val) rs2125172066
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1372-6C>T
NM_001927.4(DES):c.1372-8C>T rs794727968
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) rs1060503170
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.141C>A (p.Ser47Arg) rs749028181
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.20C>T (p.Ser7Phe) rs903985237
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472
NM_001927.4(DES):c.25C>G (p.Gln9Glu) rs886044488
NM_001927.4(DES):c.262_263inv (p.Leu88Arg)
NM_001927.4(DES):c.30C>A (p.Arg10=) rs886042179
NM_001927.4(DES):c.313C>G (p.Arg105Gly)
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.327G>T (p.Lys109Asn) rs2125166233
NM_001927.4(DES):c.332A>G (p.Glu111Gly) rs1575013251
NM_001927.4(DES):c.348T>A (p.Asn116Lys) rs766333303
NM_001927.4(DES):c.352C>T (p.Arg118Cys) rs1188232371
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.368T>A (p.Ile123Asn) rs1954373441
NM_001927.4(DES):c.380G>A (p.Arg127His)
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.43C>A (p.Arg15Ser) rs756390565
NM_001927.4(DES):c.449G>A (p.Arg150Gln) rs876661344
NM_001927.4(DES):c.465C>T (p.Tyr155=) rs1458306248
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.473A>T (p.Glu158Val) rs1085307571
NM_001927.4(DES):c.476T>C (p.Leu159Pro) rs1559352425
NM_001927.4(DES):c.479G>A (p.Arg160Gln) rs1173534531
NM_001927.4(DES):c.494A>G (p.Gln165Arg) rs1369044757
NM_001927.4(DES):c.529G>A (p.Asp177Asn) rs1057524813
NM_001927.4(DES):c.537_542dup (p.Arg180_Asp181insGluArg)
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
NM_001927.4(DES):c.554A>T (p.Asp185Val)
NM_001927.4(DES):c.558C>G (p.Asp186Glu) rs1575013561
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.560T>C (p.Leu187Pro) rs1248833348
NM_001927.4(DES):c.567G>C (p.Arg189=) rs886044489
NM_001927.4(DES):c.571A>G (p.Lys191Glu) rs1483093429
NM_001927.4(DES):c.579-5C>T rs886042889
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.610G>T (p.Ala204Ser) rs1575014034
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.625G>C (p.Ala209Pro) rs1553603386
NM_001927.4(DES):c.664C>G (p.Arg222Gly) rs374687448
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.709G>T (p.Ala237Ser) rs397516697
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.742C>T (p.Arg248Cys) rs772117708
NM_001927.4(DES):c.743G>A (p.Arg248His) rs375906682
NM_001927.4(DES):c.768A>G (p.Glu256=) rs886044420
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001927.4(DES):c.832C>T (p.Arg278Trp) rs794728985
NM_001927.4(DES):c.833G>C (p.Arg278Pro) rs761475402
NM_001927.4(DES):c.864C>A (p.Asn288Lys) rs1954421395
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_001927.4(DES):c.93T>G (p.Ser31Arg) rs2017800
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.956A>C (p.Gln319Pro)
NM_001927.4(DES):c.962T>A (p.Met321Lys)
NM_001927.4(DES):c.962T>C (p.Met321Thr) rs760197212
NM_001927.4(DES):c.976C>T (p.His326Tyr) rs794728987
NM_001927.4(DES):c.97C>T (p.Pro33Ser) rs886042942
NM_001927.4(DES):c.986A>C (p.Gln329Pro) rs1060503168
NM_001927.4(DES):c.991T>A (p.Tyr331Asn) rs1064795298
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667

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.