ClinVar Miner

List of variants in gene DES reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
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.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
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.540C>T (p.Arg180=) rs757644636 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.699C>T (p.Asn233=) rs758066814 0.00009
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.299A>C (p.Glu100Ala) rs762738069 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 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.268G>C (p.Asp90His) rs1267102255 0.00004
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
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.936C>T (p.Asp312=) rs769213907 0.00003
NM_001927.4(DES):c.1008C>T (p.Asp336=) rs531293539 0.00002
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.1288+1G>A rs112224037 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.196C>A (p.Leu66Met) rs1320380570 0.00002
NM_001927.4(DES):c.258C>G (p.Gly86=) rs994454109 0.00002
NM_001927.4(DES):c.40T>C (p.Tyr14His) rs750819338 0.00002
NM_001927.4(DES):c.414C>G (p.Ala138=) rs1445220768 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.933C>T (p.Asn311=) rs756434148 0.00002
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 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.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1209C>T (p.Ala403=) rs200054661 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1227G>A (p.Leu409=) rs143954788 0.00001
NM_001927.4(DES):c.1272T>C (p.Ser424=) rs370720293 0.00001
NM_001927.4(DES):c.12C>A (p.Ala4=) rs762566962 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.1335G>A (p.Thr445=) rs780984657 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.150G>T (p.Thr50=) rs1179760415 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.282C>G (p.Ala94=) rs397516693 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.291G>A (p.Val97=) rs775205419 0.00001
NM_001927.4(DES):c.313C>T (p.Arg105Cys) rs794728993 0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285 0.00001
NM_001927.4(DES):c.357C>T (p.Phe119=) rs1156903614 0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln) rs763769862 0.00001
NM_001927.4(DES):c.488G>C (p.Arg163Pro) rs1457012198 0.00001
NM_001927.4(DES):c.516G>A (p.Gln172=) rs1014762661 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.552C>T (p.Leu184=) rs1050510822 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.593T>C (p.Ile198Thr) rs773271116 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.60G>A (p.Gly20=) rs1058253 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.640-4C>G rs375680081 0.00001
NM_001927.4(DES):c.664C>T (p.Arg222Cys) rs374687448 0.00001
NM_001927.4(DES):c.66G>A (p.Pro22=) rs767502653 0.00001
NM_001927.4(DES):c.673C>T (p.Leu225=) rs774330779 0.00001
NM_001927.4(DES):c.710C>T (p.Ala237Val) rs374144840 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.746A>C (p.Glu249Ala) rs1256488465 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.816C>T (p.Ala272=) rs759823001 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001927.4(DES):c.83C>T (p.Ser28Phe) rs1954361986 0.00001
NM_001927.4(DES):c.855G>A (p.Ala285=) rs139818514 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.1002G>A (p.Glu334=)
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1024-4G>A
NM_001927.4(DES):c.1073G>T (p.Ser358Ile)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1096A>G (p.Asn366Asp)
NM_001927.4(DES):c.1099A>G (p.Ile367Val) rs62636494
NM_001927.4(DES):c.109C>A (p.Arg37=)
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
NM_001927.4(DES):c.1125G>C (p.Arg375=)
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1153C>G (p.Leu385Val) rs1393155504
NM_001927.4(DES):c.1157G>A (p.Arg386His) rs1029457073
NM_001927.4(DES):c.1157G>T (p.Arg386Leu)
NM_001927.4(DES):c.115G>A (p.Gly39Ser) rs758434755
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.120C>T (p.Phe40=)
NM_001927.4(DES):c.1215C>T (p.Tyr405=)
NM_001927.4(DES):c.1227G>T (p.Leu409=) rs143954788
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1269C>T (p.Tyr423=) rs765867148
NM_001927.4(DES):c.1281C>T (p.Asn427=) rs17853018
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1308G>A (p.Arg436=)
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) rs1114167327
NM_001927.4(DES):c.1335G>T (p.Thr445=)
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1360C>A (p.Arg454=)
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1371+2dup rs2125172078
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1401T>C (p.His467=)
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.144G>A (p.Ser48=) rs1553603221
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.15C>A (p.Tyr5Ter)
NM_001927.4(DES):c.172C>T (p.Arg58Cys)
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
NM_001927.4(DES):c.17C>G (p.Ser6Trp) rs1214936508
NM_001927.4(DES):c.190G>A (p.Gly64Arg)
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.221T>C (p.Leu74Pro)
NM_001927.4(DES):c.246C>T (p.Ser82=)
NM_001927.4(DES):c.258C>T (p.Gly86=) rs994454109
NM_001927.4(DES):c.282C>T (p.Ala94=)
NM_001927.4(DES):c.303T>C (p.Phe101=)
NM_001927.4(DES):c.314G>C (p.Arg105Pro)
NM_001927.4(DES):c.314_315delinsCT (p.Arg105Pro)
NM_001927.4(DES):c.315C>T (p.Arg105=)
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.327G>C (p.Lys109Asn)
NM_001927.4(DES):c.339G>A (p.Gln113=)
NM_001927.4(DES):c.349G>C (p.Asp117His) rs1954372615
NM_001927.4(DES):c.351C>T (p.Asp117=)
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
NM_001927.4(DES):c.361A>C (p.Asn121His) rs1954373113
NM_001927.4(DES):c.37T>C (p.Ser13Pro) rs1954359599
NM_001927.4(DES):c.396G>C (p.Gln132His)
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.406C>G (p.Leu136Val) rs1175707667
NM_001927.4(DES):c.411C>T (p.Ala137=) rs549278754
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
NM_001927.4(DES):c.429C>T (p.Leu143=)
NM_001927.4(DES):c.435C>A (p.Gly145=)
NM_001927.4(DES):c.438C>G (p.Arg146=) rs569103926
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
NM_001927.4(DES):c.446C>G (p.Thr149Arg)
NM_001927.4(DES):c.447G>A (p.Thr149=)
NM_001927.4(DES):c.450A>C (p.Arg150=)
NM_001927.4(DES):c.456C>T (p.Ala152=)
NM_001927.4(DES):c.460C>A (p.Leu154Ile)
NM_001927.4(DES):c.461T>C (p.Leu154Pro)
NM_001927.4(DES):c.462C>T (p.Leu154=)
NM_001927.4(DES):c.480G>C (p.Arg160=)
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
NM_001927.4(DES):c.483G>C (p.Glu161Asp)
NM_001927.4(DES):c.490C>A (p.Arg164Ser)
NM_001927.4(DES):c.495G>C (p.Gln165His)
NM_001927.4(DES):c.510T>C (p.Thr170=)
NM_001927.4(DES):c.515A>T (p.Gln172Leu)
NM_001927.4(DES):c.522G>C (p.Ala174=)
NM_001927.4(DES):c.540C>G (p.Arg180=)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)
NM_001927.4(DES):c.552C>G (p.Leu184=)
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.578+3G>T
NM_001927.4(DES):c.582G>C (p.Leu194=)
NM_001927.4(DES):c.597G>C (p.Gln199His)
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.622T>C (p.Leu208=) rs764389526
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.651A>G (p.Ala217=) rs1553603407
NM_001927.4(DES):c.658C>G (p.Leu220Val)
NM_001927.4(DES):c.670G>C (p.Asp224His)
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
NM_001927.4(DES):c.705G>A (p.Glu235=) rs370836572
NM_001927.4(DES):c.709G>T (p.Ala237Ser) rs397516697
NM_001927.4(DES):c.729T>C (p.His243=) rs949090924
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
NM_001927.4(DES):c.767A>G (p.Glu256Gly) rs1553603440
NM_001927.4(DES):c.823A>G (p.Arg275Gly) rs994389035
NM_001927.4(DES):c.832C>T (p.Arg278Trp) rs794728985
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
NM_001927.4(DES):c.847A>G (p.Thr283Ala)
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.906C>A (p.Asp302Glu) rs1224203630
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001927.4(DES):c.998G>T (p.Cys333Phe)
NM_001927.4(DES):c.999C>G (p.Cys333Trp)
NM_001927.4(DES):c.9G>A (p.Gln3=)

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