ClinVar Miner

List of variants in gene DES reported as uncertain significance for Desmin-related myofibrillar myopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 545
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.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.*280G>A rs925513578 0.00024
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.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.*51C>A rs372291142 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.*588G>A rs746886224 0.00010
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.*114G>T rs755277387 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001927.4(DES):c.*489G>A rs886055655 0.00006
NM_001927.4(DES):c.*695C>T rs1452548510 0.00006
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.*112C>G rs540351476 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 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.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
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.233G>T (p.Arg78Leu) rs573916832 0.00003
NM_001927.4(DES):c.367A>G (p.Ile123Val) rs376048590 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001927.4(DES):c.461T>A (p.Leu154His) rs755106109 0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036 0.00003
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1099A>C (p.Ile367Leu) rs62636494 0.00002
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) rs142712150 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.188C>A (p.Ala63Asp) rs1345937895 0.00002
NM_001927.4(DES):c.196C>A (p.Leu66Met) rs1320380570 0.00002
NM_001927.4(DES):c.199G>A (p.Gly67Arg) rs753419517 0.00002
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186 0.00002
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992 0.00002
NM_001927.4(DES):c.40T>C (p.Tyr14His) rs750819338 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.639G>A (p.Ala213=) rs377337947 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001927.4(DES):c.*428G>C rs886055654 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.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1047G>A (p.Met349Ile) rs375005961 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.10G>A (p.Ala4Thr) rs1239304442 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.1142T>C (p.Met381Thr) rs779749720 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.1156C>T (p.Arg386Cys) rs369765867 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.1250A>G (p.Asn417Ser) rs376141178 0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu) rs1427557970 0.00001
NM_001927.4(DES):c.1300G>A (p.Glu434Lys) rs952020807 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.155G>C (p.Arg52Pro) rs1372689272 0.00001
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.280G>A (p.Ala94Thr) rs1163703259 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.28C>T (p.Arg10Cys) rs1196125127 0.00001
NM_001927.4(DES):c.298G>A (p.Glu100Lys) rs1434605523 0.00001
NM_001927.4(DES):c.29G>A (p.Arg10His) rs757839952 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.371A>G (p.Glu124Gly) rs564121737 0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln) rs763769862 0.00001
NM_001927.4(DES):c.469G>A (p.Glu157Lys) rs1265299630 0.00001
NM_001927.4(DES):c.488G>C (p.Arg163Pro) rs1457012198 0.00001
NM_001927.4(DES):c.49A>T (p.Thr17Ser) rs1342928312 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.524G>A (p.Arg175His) rs878854472 0.00001
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198 0.00001
NM_001927.4(DES):c.545A>C (p.Asn182Thr) rs1358211194 0.00001
NM_001927.4(DES):c.560T>G (p.Leu187Arg) rs1248833348 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.58G>A (p.Gly20Arg) rs759306707 0.00001
NM_001927.4(DES):c.593T>C (p.Ile198Thr) rs773271116 0.00001
NM_001927.4(DES):c.603G>C (p.Lys201Asn) rs765376573 0.00001
NM_001927.4(DES):c.615G>C (p.Glu205Asp) rs1295010624 0.00001
NM_001927.4(DES):c.65C>G (p.Pro22Arg) rs748158450 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.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.797C>T (p.Ser266Phe) rs1316058461 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.817G>A (p.Ala273Thr) rs770258461 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.883T>G (p.Trp295Gly) rs794728986 0.00001
NM_001927.4(DES):c.897+4G>A rs1329171337 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.974G>A (p.Arg325Gln) rs766035912 0.00001
NC_000002.11:g.(?_220283513)_(220299541_?)del
NC_000002.11:g.(?_220286089)_(220292091_?)del
NC_000002.11:g.(?_220288441)_(220288541_?)dup
NC_000002.12:g.(?_219420241)_(219426000_?)dup
NC_000002.12:g.(?_219420485)_(219426000_?)dup
NM_001927.4(DES):c.*295G>A rs1954536782
NM_001927.4(DES):c.1000G>A (p.Glu334Lys) rs1227068284
NM_001927.4(DES):c.1002G>T (p.Glu334Asp)
NM_001927.4(DES):c.1004T>C (p.Ile335Thr) rs1954429245
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1009G>T (p.Ala337Ser) rs59962885
NM_001927.4(DES):c.100G>A (p.Val34Met)
NM_001927.4(DES):c.1010C>A (p.Ala337Asp) rs1954429477
NM_001927.4(DES):c.1017G>C (p.Lys339Asn) rs1954429823
NM_001927.4(DES):c.1019G>A (p.Gly340Asp) rs1559353118
NM_001927.4(DES):c.1022C>T (p.Thr341Ile) rs1338606921
NM_001927.4(DES):c.1023+5G>A
NM_001927.4(DES):c.1023+5G>C
NM_001927.4(DES):c.1023+6_1023+24dup
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) rs886044226
NM_001927.4(DES):c.1031C>G (p.Ser344Cys)
NM_001927.4(DES):c.103T>C (p.Phe35Leu)
NM_001927.4(DES):c.1043A>T (p.Gln348Leu) rs1411703397
NM_001927.4(DES):c.1045A>G (p.Met349Val)
NM_001927.4(DES):c.1049G>T (p.Arg350Leu) rs57965306
NM_001927.4(DES):c.104T>C (p.Phe35Ser) rs1575012999
NM_001927.4(DES):c.105C>G (p.Phe35Leu) rs768166041
NM_001927.4(DES):c.1062C>A (p.Asp354Glu)
NM_001927.4(DES):c.1063C>G (p.Arg355Gly) rs762808690
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.106C>T (p.Pro36Ser)
NM_001927.4(DES):c.1078G>T (p.Ala360Ser) rs121913000
NM_001927.4(DES):c.1084G>A (p.Gly362Ser)
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1092G>T (p.Gln364His)
NM_001927.4(DES):c.1093G>C (p.Asp365His)
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1097A>G (p.Asn366Ser)
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.1103_1104delinsTA (p.Ala368Val) rs2125168708
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys) rs2125168717
NM_001927.4(DES):c.1106G>A (p.Arg369His)
NM_001927.4(DES):c.1106G>T (p.Arg369Leu) rs1168604493
NM_001927.4(DES):c.110G>T (p.Arg37Leu) rs1954363342
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del) rs2125168730
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
NM_001927.4(DES):c.1118A>C (p.Glu373Ala)
NM_001927.4(DES):c.1119A>C (p.Glu373Asp) rs780628142
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)
NM_001927.4(DES):c.1126C>G (p.His376Asp)
NM_001927.4(DES):c.1127A>G (p.His376Arg)
NM_001927.4(DES):c.1133A>G (p.Lys378Arg) rs202010947
NM_001927.4(DES):c.1144G>A (p.Ala382Thr) rs1954441688
NM_001927.4(DES):c.1147C>A (p.Arg383Ser) rs748945548
NM_001927.4(DES):c.1148G>C (p.Arg383Pro) rs1292042317
NM_001927.4(DES):c.1151A>C (p.His384Pro)
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.1158_1160del (p.Glu387del) rs1559353314
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) rs865961434
NM_001927.4(DES):c.115G>A (p.Gly39Ser) rs758434755
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)
NM_001927.4(DES):c.116G>A (p.Gly39Asp)
NM_001927.4(DES):c.116G>C (p.Gly39Ala)
NM_001927.4(DES):c.1172T>C (p.Leu391Pro) rs1954443135
NM_001927.4(DES):c.1172T>G (p.Leu391Arg) rs1954443135
NM_001927.4(DES):c.1175T>G (p.Leu392Arg)
NM_001927.4(DES):c.1180G>T (p.Val394Leu) rs776786349
NM_001927.4(DES):c.1187T>C (p.Met396Thr)
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1193T>C (p.Leu398Pro) rs796115330
NM_001927.4(DES):c.1193del (p.Leu398fs) rs2125168879
NM_001927.4(DES):c.11C>A (p.Ala4Asp)
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.1205T>G (p.Ile402Ser) rs1553603571
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)
NM_001927.4(DES):c.1213T>C (p.Tyr405His)
NM_001927.4(DES):c.1218G>T (p.Arg406=)
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) rs1553603573
NM_001927.4(DES):c.1228G>A (p.Glu410Lys) rs2125168940
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)
NM_001927.4(DES):c.1238A>G (p.Glu413Gly) rs1954445270
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) rs751942358
NM_001927.4(DES):c.1243del (p.Arg415fs) rs1954445390
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1245G>A (p.Arg415=)
NM_001927.4(DES):c.1248C>G (p.Ile416Met)
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) rs62635763
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)
NM_001927.4(DES):c.1262A>G (p.Gln421Arg) rs756613339
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr) rs1954488237
NM_001927.4(DES):c.1285del (p.Arg429fs) rs1954488513
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1288G>A (p.Glu430Lys)
NM_001927.4(DES):c.1288G>C (p.Glu430Gln) rs1042793960
NM_001927.4(DES):c.1289-3C>T
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)
NM_001927.4(DES):c.130G>A (p.Gly44Ser) rs1064794869
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) rs878854471
NM_001927.4(DES):c.1312T>G (p.Ser438Ala) rs1553603818
NM_001927.4(DES):c.1313C>A (p.Ser438Tyr)
NM_001927.4(DES):c.131G>T (p.Gly44Val) rs1954364360
NM_001927.4(DES):c.1322A>C (p.His441Pro)
NM_001927.4(DES):c.1322A>T (p.His441Leu) rs1064796937
NM_001927.4(DES):c.1323T>G (p.His441Gln) rs751325263
NM_001927.4(DES):c.1324A>C (p.Thr442Pro) rs794728995
NM_001927.4(DES):c.1334C>T (p.Thr445Met)
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1348A>G (p.Thr450Ala)
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
NM_001927.4(DES):c.1349C>T (p.Thr450Ile)
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1354_1358del (p.Glu452fs) rs1060503171
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)
NM_001927.4(DES):c.1364A>T (p.Asp455Val) rs2125172066
NM_001927.4(DES):c.1365del (p.Asp455fs)
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1371+1G>T
NM_001927.4(DES):c.1371+2dup rs2125172078
NM_001927.4(DES):c.1371+3A>T
NM_001927.4(DES):c.1372-1G>A
NM_001927.4(DES):c.1372-2A>G
NM_001927.4(DES):c.1372-3C>T
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) rs1060503170
NM_001927.4(DES):c.1388C>T (p.Thr463Ile)
NM_001927.4(DES):c.1390C>T (p.Gln464Ter) rs2125172262
NM_001927.4(DES):c.1408C>T (p.Leu470Phe) rs1060503172
NM_001927.4(DES):c.1409T>C (p.Leu470Pro) rs1954528633
NM_001927.4(DES):c.140G>T (p.Ser47Ile) rs2125165917
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.1412A>C (p.Ter471Ser) rs794728991
NM_001927.4(DES):c.141C>A (p.Ser47Arg) rs749028181
NM_001927.4(DES):c.152C>A (p.Ser51Tyr)
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.155G>A (p.Arg52His) rs1372689272
NM_001927.4(DES):c.157G>A (p.Val53Met) rs1393972560
NM_001927.4(DES):c.157G>T (p.Val53Leu) rs1393972560
NM_001927.4(DES):c.164A>T (p.Gln55Leu)
NM_001927.4(DES):c.166G>T (p.Val56Leu)
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
NM_001927.4(DES):c.176C>T (p.Thr59Met) rs773826073
NM_001927.4(DES):c.179C>T (p.Ser60Leu)
NM_001927.4(DES):c.17C>G (p.Ser6Trp) rs1214936508
NM_001927.4(DES):c.17C>T (p.Ser6Leu) rs1214936508
NM_001927.4(DES):c.182G>A (p.Gly61Asp) rs1447436485
NM_001927.4(DES):c.185G>C (p.Gly62Ala)
NM_001927.4(DES):c.188C>T (p.Ala63Val)
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.208C>T (p.Arg70Trp) rs2125166022
NM_001927.4(DES):c.209G>A (p.Arg70Gln)
NM_001927.4(DES):c.211G>T (p.Ala71Ser)
NM_001927.4(DES):c.214A>T (p.Ser72Cys)
NM_001927.4(DES):c.218G>T (p.Arg73Leu) rs752518966
NM_001927.4(DES):c.221T>A (p.Leu74Gln) rs1164195329
NM_001927.4(DES):c.224G>A (p.Gly75Glu)
NM_001927.4(DES):c.22A>G (p.Ser8Gly)
NM_001927.4(DES):c.230C>T (p.Thr77Ile) rs1392710887
NM_001927.4(DES):c.232C>T (p.Arg78Cys)
NM_001927.4(DES):c.235A>C (p.Thr79Pro)
NM_001927.4(DES):c.236C>A (p.Thr79Lys)
NM_001927.4(DES):c.236C>T (p.Thr79Met)
NM_001927.4(DES):c.238C>T (p.Pro80Ser)
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)
NM_001927.4(DES):c.244T>C (p.Ser82Pro)
NM_001927.4(DES):c.245C>T (p.Ser82Phe) rs1358038961
NM_001927.4(DES):c.247T>C (p.Tyr83His) rs1954368990
NM_001927.4(DES):c.253G>A (p.Ala85Thr)
NM_001927.4(DES):c.254C>T (p.Ala85Val)
NM_001927.4(DES):c.261G>T (p.Glu87Asp)
NM_001927.4(DES):c.269A>C (p.Asp90Ala) rs1954369708
NM_001927.4(DES):c.269A>T (p.Asp90Val) rs1954369708
NM_001927.4(DES):c.275C>T (p.Ser92Leu) rs1954369865
NM_001927.4(DES):c.278T>C (p.Leu93Pro)
NM_001927.4(DES):c.281C>T (p.Ala94Val)
NM_001927.4(DES):c.284A>T (p.Asp95Val) rs1954370194
NM_001927.4(DES):c.287C>G (p.Ala96Gly)
NM_001927.4(DES):c.28C>A (p.Arg10Ser) rs1196125127
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)
NM_001927.4(DES):c.299A>G (p.Glu100Gly)
NM_001927.4(DES):c.307A>G (p.Thr103Ala)
NM_001927.4(DES):c.310A>G (p.Thr104Ala) rs1559352310
NM_001927.4(DES):c.311C>G (p.Thr104Arg) rs980849177
NM_001927.4(DES):c.311C>T (p.Thr104Met) rs980849177
NM_001927.4(DES):c.314G>T (p.Arg105Leu) rs1406795636
NM_001927.4(DES):c.319A>G (p.Asn107Asp) rs2125166213
NM_001927.4(DES):c.31G>A (p.Val11Met)
NM_001927.4(DES):c.31G>T (p.Val11Leu)
NM_001927.4(DES):c.320A>C (p.Asn107Thr) rs1156440628
NM_001927.4(DES):c.321C>A (p.Asn107Lys)
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.323A>G (p.Glu108Gly) rs1954371679
NM_001927.4(DES):c.325A>G (p.Lys109Glu) rs1954371825
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.32T>C (p.Val11Ala)
NM_001927.4(DES):c.334C>G (p.Leu112Val)
NM_001927.4(DES):c.335T>G (p.Leu112Arg) rs1954372144
NM_001927.4(DES):c.341A>G (p.Glu114Gly) rs2125166251
NM_001927.4(DES):c.343C>T (p.Leu115Phe)
NM_001927.4(DES):c.344T>C (p.Leu115Pro) rs2125166259
NM_001927.4(DES):c.349G>C (p.Asp117His) rs1954372615
NM_001927.4(DES):c.352C>A (p.Arg118Ser) rs1188232371
NM_001927.4(DES):c.352C>T (p.Arg118Cys) rs1188232371
NM_001927.4(DES):c.358G>C (p.Ala120Pro) rs794728996
NM_001927.4(DES):c.359C>A (p.Ala120Asp) rs1954373010
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
NM_001927.4(DES):c.361A>C (p.Asn121His) rs1954373113
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.367A>C (p.Ile123Leu)
NM_001927.4(DES):c.368T>G (p.Ile123Ser)
NM_001927.4(DES):c.371A>C (p.Glu124Ala) rs564121737
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.379C>G (p.Arg127Gly) rs868157645
NM_001927.4(DES):c.379C>T (p.Arg127Cys)
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.382T>C (p.Phe128Leu)
NM_001927.4(DES):c.386T>G (p.Leu129Arg) rs1954374163
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.401C>A (p.Ala134Glu)
NM_001927.4(DES):c.404C>G (p.Ala135Gly) rs546741834
NM_001927.4(DES):c.406C>G (p.Leu136Val) rs1175707667
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.409G>A (p.Ala137Thr)
NM_001927.4(DES):c.410C>A (p.Ala137Asp) rs775115627
NM_001927.4(DES):c.415G>A (p.Glu139Lys) rs763769862
NM_001927.4(DES):c.418G>A (p.Val140Met) rs1377068684
NM_001927.4(DES):c.418G>C (p.Val140Leu) rs1377068684
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
NM_001927.4(DES):c.427C>G (p.Leu143Val) rs1954376231
NM_001927.4(DES):c.428T>C (p.Leu143Pro) rs1419950518
NM_001927.4(DES):c.428T>G (p.Leu143Arg)
NM_001927.4(DES):c.434G>A (p.Gly145Asp) rs1553603267
NM_001927.4(DES):c.436C>G (p.Arg146Gly)
NM_001927.4(DES):c.439G>C (p.Glu147Gln)
NM_001927.4(DES):c.43C>A (p.Arg15Ser) rs756390565
NM_001927.4(DES):c.43C>G (p.Arg15Gly)
NM_001927.4(DES):c.43C>T (p.Arg15Cys) rs756390565
NM_001927.4(DES):c.449G>A (p.Arg150Gln) rs876661344
NM_001927.4(DES):c.458A>G (p.Glu153Gly)
NM_001927.4(DES):c.459G>C (p.Glu153Asp)
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.466G>C (p.Glu156Gln) rs765471098
NM_001927.4(DES):c.466GAG[2] (p.Glu158del)
NM_001927.4(DES):c.467A>T (p.Glu156Val) rs2125166482
NM_001927.4(DES):c.46C>A (p.Arg16Ser) rs60798368
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
NM_001927.4(DES):c.473A>T (p.Glu158Val) rs1085307571
NM_001927.4(DES):c.481G>A (p.Glu161Lys)
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)
NM_001927.4(DES):c.488G>A (p.Arg163Gln) rs1457012198
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup) rs1954378812
NM_001927.4(DES):c.496G>A (p.Val166Met)
NM_001927.4(DES):c.49A>C (p.Thr17Pro)
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470
NM_001927.4(DES):c.500A>T (p.Glu167Val)
NM_001927.4(DES):c.501G>T (p.Glu167Asp) rs1277110592
NM_001927.4(DES):c.503T>G (p.Val168Gly)
NM_001927.4(DES):c.50C>A (p.Thr17Asn) rs1954360300
NM_001927.4(DES):c.512A>C (p.Asn171Thr)
NM_001927.4(DES):c.515A>C (p.Gln172Pro) rs2125166557
NM_001927.4(DES):c.517C>G (p.Arg173Gly)
NM_001927.4(DES):c.518G>A (p.Arg173His)
NM_001927.4(DES):c.520G>A (p.Ala174Thr)
NM_001927.4(DES):c.523C>T (p.Arg175Cys)
NM_001927.4(DES):c.529G>A (p.Asp177Asn) rs1057524813
NM_001927.4(DES):c.52T>A (p.Phe18Ile)
NM_001927.4(DES):c.530A>C (p.Asp177Ala)
NM_001927.4(DES):c.531C>A (p.Asp177Glu)
NM_001927.4(DES):c.536A>T (p.Glu179Val)
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
NM_001927.4(DES):c.539G>T (p.Arg180Leu)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del) rs1954382461
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)
NM_001927.4(DES):c.546C>G (p.Asn182Lys)
NM_001927.4(DES):c.548T>C (p.Leu183Pro)
NM_001927.4(DES):c.553G>A (p.Asp185Asn)
NM_001927.4(DES):c.554A>T (p.Asp185Val)
NM_001927.4(DES):c.556G>A (p.Asp186Asn)
NM_001927.4(DES):c.556G>C (p.Asp186His)
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) rs878854473
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.564G>T (p.Gln188His)
NM_001927.4(DES):c.571A>G (p.Lys191Glu) rs1483093429
NM_001927.4(DES):c.575C>T (p.Ala192Val) rs889191100
NM_001927.4(DES):c.586GAG[1] (p.Glu197del) rs1954405702
NM_001927.4(DES):c.59G>A (p.Gly20Glu) rs2125165738
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.607G>A (p.Glu203Lys) rs2125167376
NM_001927.4(DES):c.610G>A (p.Ala204Thr) rs1575014034
NM_001927.4(DES):c.610G>T (p.Ala204Ser) rs1575014034
NM_001927.4(DES):c.618C>A (p.Asn206Lys)
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.623T>G (p.Leu208Trp)
NM_001927.4(DES):c.629C>T (p.Ala210Val) rs1060503169
NM_001927.4(DES):c.62C>A (p.Ala21Asp) rs755107287
NM_001927.4(DES):c.639+4A>G
NM_001927.4(DES):c.639+5G>A
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.640-3C>T
NM_001927.4(DES):c.640G>T (p.Asp214Tyr) rs1954409882
NM_001927.4(DES):c.643G>C (p.Val215Leu)
NM_001927.4(DES):c.650C>T (p.Ala217Val)
NM_001927.4(DES):c.658C>G (p.Leu220Val)
NM_001927.4(DES):c.65C>T (p.Pro22Leu)
NM_001927.4(DES):c.664C>G (p.Arg222Gly) rs374687448
NM_001927.4(DES):c.665G>T (p.Arg222Leu)
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His) rs1954411290
NM_001927.4(DES):c.680G>T (p.Arg227Leu) rs141486420
NM_001927.4(DES):c.683G>T (p.Arg228Ile)
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
NM_001927.4(DES):c.68G>C (p.Gly23Ala)
NM_001927.4(DES):c.694C>G (p.Leu232Val)
NM_001927.4(DES):c.700G>A (p.Glu234Lys) rs774739275
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.715C>T (p.Leu239Phe)
NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)
NM_001927.4(DES):c.718A>G (p.Lys240Glu) rs1954413354
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.734A>G (p.Glu245Gly) rs1575014243
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001927.4(DES):c.735+3A>T rs267607483
NM_001927.4(DES):c.735+6C>A
NM_001927.4(DES):c.735+6C>T rs1302528006
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735_735+3dup rs1954413969
NM_001927.4(DES):c.736-2A>T
NM_001927.4(DES):c.736-3C>A
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
NM_001927.4(DES):c.738G>C (p.Glu246Asp) rs1954417703
NM_001927.4(DES):c.73C>G (p.Pro25Ala)
NM_001927.4(DES):c.742C>A (p.Arg248Ser)
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.743G>T (p.Arg248Leu)
NM_001927.4(DES):c.749T>C (p.Leu250Ser)
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup) rs1287075970
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
NM_001927.4(DES):c.761T>G (p.Leu254Arg) rs1559352926
NM_001927.4(DES):c.767A>G (p.Glu256Gly) rs1553603440
NM_001927.4(DES):c.770A>G (p.Gln257Arg) rs1954418582
NM_001927.4(DES):c.775G>A (p.Val259Ile)
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_001927.4(DES):c.788T>C (p.Met263Thr)
NM_001927.4(DES):c.790G>A (p.Asp264Asn)
NM_001927.4(DES):c.793A>C (p.Met265Leu)
NM_001927.4(DES):c.793A>G (p.Met265Val)
NM_001927.4(DES):c.796T>C (p.Ser266Pro) rs1342331264
NM_001927.4(DES):c.79G>C (p.Gly27Arg) rs727504877
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.80G>A (p.Gly27Asp) rs1575012966
NM_001927.4(DES):c.811A>T (p.Thr271Ser) rs2125167886
NM_001927.4(DES):c.817G>C (p.Ala273Pro)
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.823A>C (p.Arg275=)
NM_001927.4(DES):c.823A>G (p.Arg275Gly) rs994389035
NM_001927.4(DES):c.825G>A (p.Arg275=)
NM_001927.4(DES):c.826G>A (p.Asp276Asn) rs1436186019
NM_001927.4(DES):c.829_831del (p.Ile277del)
NM_001927.4(DES):c.830T>A (p.Ile277Asn) rs1459036752
NM_001927.4(DES):c.833G>A (p.Arg278Gln)
NM_001927.4(DES):c.833G>C (p.Arg278Pro) rs761475402
NM_001927.4(DES):c.839A>G (p.Gln280Arg) rs750160975
NM_001927.4(DES):c.840G>C (p.Gln280His) rs1954420895
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
NM_001927.4(DES):c.850A>G (p.Ile284Val)
NM_001927.4(DES):c.854C>G (p.Ala285Gly)
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_001927.4(DES):c.869C>G (p.Ser290Cys)
NM_001927.4(DES):c.86C>G (p.Pro29Arg)
NM_001927.4(DES):c.86C>T (p.Pro29Leu) rs1378987625
NM_001927.4(DES):c.871G>A (p.Glu291Lys)
NM_001927.4(DES):c.886T>C (p.Tyr296His) rs2125167990
NM_001927.4(DES):c.897+13_897+14delinsCT
NM_001927.4(DES):c.897+6T>G rs1954422546
NM_001927.4(DES):c.897G>A (p.Lys299=)
NM_001927.4(DES):c.898G>A (p.Val300Met) rs2125168133
NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)
NM_001927.4(DES):c.8A>G (p.Gln3Arg) rs1954358286
NM_001927.4(DES):c.904G>C (p.Asp302His)
NM_001927.4(DES):c.906C>A (p.Asp302Glu) rs1224203630
NM_001927.4(DES):c.919G>T (p.Ala307Ser)
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)
NM_001927.4(DES):c.924C>A (p.Asn308Lys)
NM_001927.4(DES):c.931A>G (p.Asn311Asp)
NM_001927.4(DES):c.932A>G (p.Asn311Ser)
NM_001927.4(DES):c.936C>A (p.Asp312Glu)
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.944G>T (p.Arg315Leu)
NM_001927.4(DES):c.953A>G (p.Lys318Arg)
NM_001927.4(DES):c.961A>G (p.Met321Val) rs1954427673
NM_001927.4(DES):c.962T>A (p.Met321Lys)
NM_001927.4(DES):c.962T>C (p.Met321Thr) rs760197212
NM_001927.4(DES):c.977A>G (p.His326Arg) rs2125168243
NM_001927.4(DES):c.986A>C (p.Gln329Pro) rs1060503168
NM_001927.4(DES):c.986A>G (p.Gln329Arg)
NM_001927.4(DES):c.991T>A (p.Tyr331Asn) rs1064795298
NM_001927.4(DES):c.992A>C (p.Tyr331Ser) rs1954428602
NM_001927.4(DES):c.995C>A (p.Thr332Asn)
NM_001927.4(DES):c.995C>T (p.Thr332Ile) rs368453327
NM_001927.4(DES):c.997T>C (p.Cys333Arg)
NM_001927.4(DES):c.998G>T (p.Cys333Phe)

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.