ClinVar Miner

List of variants in gene DES reported as uncertain significance for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP
NC_000002.12:g.(?_219420241)_(219426000_?)dup
NC_000002.12:g.(?_219420485)_(219426000_?)dup
NM_001927.4(DES):c.*112C>G
NM_001927.4(DES):c.*114G>T
NM_001927.4(DES):c.*198G>A rs560055588
NM_001927.4(DES):c.*280G>A
NM_001927.4(DES):c.*295G>A
NM_001927.4(DES):c.*428G>C rs886055654
NM_001927.4(DES):c.*489G>A rs886055655
NM_001927.4(DES):c.*51C>A
NM_001927.4(DES):c.*559G>A rs547498920
NM_001927.4(DES):c.*588G>A rs746886224
NM_001927.4(DES):c.*695C>T
NM_001927.4(DES):c.-6G>A rs774967446
NM_001927.4(DES):c.1000G>A (p.Glu334Lys) rs1227068284
NM_001927.4(DES):c.1004T>C (p.Ile335Thr)
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885
NM_001927.4(DES):c.1010C>A (p.Ala337Asp)
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) rs57496341
NM_001927.4(DES):c.1017G>C (p.Lys339Asn)
NM_001927.4(DES):c.1019G>A (p.Gly340Asp) rs1559353118
NM_001927.4(DES):c.1022C>T (p.Thr341Ile)
NM_001927.4(DES):c.1023+6T>G
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1024-7C>G rs779098835
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306
NM_001927.4(DES):c.1049G>T (p.Arg350Leu)
NM_001927.4(DES):c.104T>C (p.Phe35Ser) rs1575012999
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)
NM_001927.4(DES):c.1063C>G (p.Arg355Gly) rs762808690
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) rs61368398
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1099A>C (p.Ile367Leu)
NM_001927.4(DES):c.109C>G (p.Arg37Gly) rs537881554
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554
NM_001927.4(DES):c.10G>A (p.Ala4Thr)
NM_001927.4(DES):c.1100T>C (p.Ile367Thr) rs1480755998
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849
NM_001927.4(DES):c.1106G>T (p.Arg369Leu)
NM_001927.4(DES):c.110G>T (p.Arg37Leu)
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)
NM_001927.4(DES):c.1119A>C (p.Glu373Asp)
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723
NM_001927.4(DES):c.1142T>C (p.Met381Thr)
NM_001927.4(DES):c.1144G>A (p.Ala382Thr)
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317
NM_001927.4(DES):c.1148G>C (p.Arg383Pro)
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736
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)
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)
NM_001927.4(DES):c.1172T>G (p.Leu391Arg)
NM_001927.4(DES):c.1180G>T (p.Val394Leu) rs776786349
NM_001927.4(DES):c.1193T>C (p.Leu398Pro)
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.1205T>G (p.Ile402Ser)
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) rs1553603573
NM_001927.4(DES):c.1228G>A (p.Glu410Lys)
NM_001927.4(DES):c.1238A>G (p.Glu413Gly)
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358
NM_001927.4(DES):c.1243del (p.Arg415fs)
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.1250A>G (p.Asn417Ser)
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) rs62635763
NM_001927.4(DES):c.1262A>G (p.Gln421Arg) rs756613339
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr)
NM_001927.4(DES):c.1285del (p.Arg429fs)
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1300G>A (p.Glu434Lys) rs952020807
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.131G>T (p.Gly44Val)
NM_001927.4(DES):c.1322A>T (p.His441Leu) rs1064796937
NM_001927.4(DES):c.1323T>G (p.His441Gln)
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1354_1358del (p.Glu452fs) rs1060503171
NM_001927.4(DES):c.1371+1G>A rs748323823
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) rs1060503170
NM_001927.4(DES):c.1408C>T (p.Leu470Phe) rs1060503172
NM_001927.4(DES):c.1409T>C (p.Leu470Pro)
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.157G>A (p.Val53Met)
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868
NM_001927.4(DES):c.176C>T (p.Thr59Met)
NM_001927.4(DES):c.17C>T (p.Ser6Leu) rs1214936508
NM_001927.4(DES):c.182G>A (p.Gly61Asp)
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090
NM_001927.4(DES):c.186G>T (p.Gly62=)
NM_001927.4(DES):c.188C>A (p.Ala63Asp)
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692
NM_001927.4(DES):c.196C>A (p.Leu66Met) rs1320380570
NM_001927.4(DES):c.208C>T (p.Arg70Trp)
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966
NM_001927.4(DES):c.218G>T (p.Arg73Leu) rs752518966
NM_001927.4(DES):c.221T>A (p.Leu74Gln)
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192
NM_001927.4(DES):c.233G>T (p.Arg78Leu) rs573916832
NM_001927.4(DES):c.247T>C (p.Tyr83His)
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412
NM_001927.4(DES):c.258C>T (p.Gly86=)
NM_001927.4(DES):c.268G>C (p.Asp90His) rs1267102255
NM_001927.4(DES):c.269A>T (p.Asp90Val)
NM_001927.4(DES):c.275C>T (p.Ser92Leu)
NM_001927.4(DES):c.280G>A (p.Ala94Thr)
NM_001927.4(DES):c.284A>T (p.Asp95Val)
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593
NM_001927.4(DES):c.28C>A (p.Arg10Ser) rs1196125127
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992
NM_001927.4(DES):c.298G>A (p.Glu100Lys)
NM_001927.4(DES):c.310A>G (p.Thr104Ala) rs1559352310
NM_001927.4(DES):c.311C>T (p.Thr104Met)
NM_001927.4(DES):c.313C>T (p.Arg105Cys) rs794728993
NM_001927.4(DES):c.314G>T (p.Arg105Leu)
NM_001927.4(DES):c.320A>C (p.Asn107Thr)
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.323A>G (p.Glu108Gly)
NM_001927.4(DES):c.325A>G (p.Lys109Glu)
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285
NM_001927.4(DES):c.335T>G (p.Leu112Arg)
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.349G>C (p.Asp117His)
NM_001927.4(DES):c.352C>A (p.Arg118Ser) rs1188232371
NM_001927.4(DES):c.359C>A (p.Ala120Asp)
NM_001927.4(DES):c.361A>C (p.Asn121His)
NM_001927.4(DES):c.367A>G (p.Ile123Val)
NM_001927.4(DES):c.371A>C (p.Glu124Ala) rs564121737
NM_001927.4(DES):c.371A>G (p.Glu124Gly)
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.379C>G (p.Arg127Gly)
NM_001927.4(DES):c.37T>C (p.Ser13Pro)
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260
NM_001927.4(DES):c.404C>G (p.Ala135Gly)
NM_001927.4(DES):c.406C>G (p.Leu136Val)
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695
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.427C>G (p.Leu143Val)
NM_001927.4(DES):c.428T>C (p.Leu143Pro)
NM_001927.4(DES):c.434G>A (p.Gly145Asp) rs1553603267
NM_001927.4(DES):c.449G>A (p.Arg150Gln) rs876661344
NM_001927.4(DES):c.461T>A (p.Leu154His) rs755106109
NM_001927.4(DES):c.467A>T (p.Glu156Val)
NM_001927.4(DES):c.469G>A (p.Glu157Lys)
NM_001927.4(DES):c.488G>A (p.Arg163Gln) rs1457012198
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup)
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470
NM_001927.4(DES):c.50C>A (p.Thr17Asn)
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
NM_001927.4(DES):c.524G>A (p.Arg175His) rs878854472
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del)
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>G (p.Leu187Arg)
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151
NM_001927.4(DES):c.566G>A (p.Arg189Gln) rs1025323214
NM_001927.4(DES):c.571A>G (p.Lys191Glu)
NM_001927.4(DES):c.58G>A (p.Gly20Arg) rs759306707
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.603G>C (p.Lys201Asn) rs765376573
NM_001927.4(DES):c.609A>C (p.Glu203Asp) rs369495436
NM_001927.4(DES):c.610G>T (p.Ala204Ser) rs1575014034
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.629C>T (p.Ala210Val) rs1060503169
NM_001927.4(DES):c.62C>A (p.Ala21Asp)
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036
NM_001927.4(DES):c.639G>A (p.Ala213=) rs377337947
NM_001927.4(DES):c.640G>T (p.Asp214Tyr)
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941
NM_001927.4(DES):c.65C>G (p.Pro22Arg) rs748158450
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His)
NM_001927.4(DES):c.66G>A (p.Pro22=)
NM_001927.4(DES):c.679C>T (p.Arg227Cys) rs767743962
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420
NM_001927.4(DES):c.680G>T (p.Arg227Leu)
NM_001927.4(DES):c.694C>T (p.Leu232Phe) rs764764823
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.718A>G (p.Lys240Glu)
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369
NM_001927.4(DES):c.734A>G (p.Glu245Gly) rs1575014243
NM_001927.4(DES):c.735+11G>A
NM_001927.4(DES):c.735+3A>T rs267607483
NM_001927.4(DES):c.735+6C>T
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735_735+3dup
NM_001927.4(DES):c.738G>C (p.Glu246Asp)
NM_001927.4(DES):c.742C>T (p.Arg248Cys) rs772117708
NM_001927.4(DES):c.746A>C (p.Glu249Ala)
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)
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)
NM_001927.4(DES):c.796T>C (p.Ser266Pro)
NM_001927.4(DES):c.79G>A (p.Gly27Ser) 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.817G>A (p.Ala273Thr)
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.826G>A (p.Asp276Asn)
NM_001927.4(DES):c.830T>A (p.Ile277Asn)
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.839A>G (p.Gln280Arg) rs750160975
NM_001927.4(DES):c.840G>C (p.Gln280His)
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_001927.4(DES):c.86C>T (p.Pro29Leu)
NM_001927.4(DES):c.883T>G (p.Trp295Gly) rs794728986
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001927.4(DES):c.897+4G>A
NM_001927.4(DES):c.897+6T>G
NM_001927.4(DES):c.8A>G (p.Gln3Arg)
NM_001927.4(DES):c.906C>A (p.Asp302Glu)
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091
NM_001927.4(DES):c.93T>G (p.Ser31Arg) rs2017800
NM_001927.4(DES):c.943C>T (p.Arg315Cys) rs748742357
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912
NM_001927.4(DES):c.976C>T (p.His326Tyr) rs794728987
NM_001927.4(DES):c.986A>C (p.Gln329Pro) rs1060503168
NM_001927.4(DES):c.992A>C (p.Tyr331Ser)
NM_001927.4(DES):c.995C>T (p.Thr332Ile) rs368453327
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667

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