ClinVar Miner

List of variants in gene DOLK studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NC_000009.12:g.128947638C>G
NM_014908.3(DOLK):c.*124A>G rs758102948
NM_014908.3(DOLK):c.-149G>A rs886063515
NM_014908.3(DOLK):c.-194G>T rs886063516
NM_014908.3(DOLK):c.-255C>T rs886063517
NM_014908.3(DOLK):c.-269G>T rs371065378
NM_014908.3(DOLK):c.-386C>A rs576979416
NM_014908.3(DOLK):c.-394A>G rs750538185
NM_014908.3(DOLK):c.-49A>G rs116439010
NM_014908.3(DOLK):c.-94G>T rs567989779
NM_014908.3(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.3(DOLK):c.1067G>A (p.Arg356Gln) rs199535796
NM_014908.3(DOLK):c.1087G>A (p.Ala363Thr) rs1588262062
NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) rs146395561
NM_014908.3(DOLK):c.1129C>T (p.Arg377Cys) rs868232833
NM_014908.3(DOLK):c.1130G>A (p.Arg377His) rs374317240
NM_014908.3(DOLK):c.1139G>A (p.Arg380His) rs553112177
NM_014908.3(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.3(DOLK):c.114A>G (p.Val38=) rs142000757
NM_014908.3(DOLK):c.1165C>T (p.Arg389Trp) rs758129067
NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) rs201984428
NM_014908.3(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.3(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met) rs138962748
NM_014908.3(DOLK):c.1262T>C (p.Leu421Pro) rs145125254
NM_014908.3(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829
NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.3(DOLK):c.1333C>A (p.Leu445Met) rs866088033
NM_014908.3(DOLK):c.1357G>C (p.Val453Leu) rs1294479059
NM_014908.3(DOLK):c.1373G>T (p.Gly458Val) rs999023298
NM_014908.3(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) rs144209926
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.3(DOLK):c.1558A>G (p.Thr520Ala) rs374860681
NM_014908.3(DOLK):c.159C>G (p.Ala53=) rs199857223
NM_014908.3(DOLK):c.164A>G (p.Tyr55Cys) rs41305507
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.194A>G (p.Gln65Arg) rs754744977
NM_014908.3(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.3(DOLK):c.210C>G (p.Val70=) rs750368652
NM_014908.3(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.3(DOLK):c.288G>C (p.Lys96Asn) rs771259120
NM_014908.3(DOLK):c.292C>T (p.Arg98Trp) rs747555089
NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.3(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.3(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.3(DOLK):c.344C>T (p.Ala115Val) rs146804211
NM_014908.3(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.3(DOLK):c.379G>A (p.Val127Met) rs752310792
NM_014908.3(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.3(DOLK):c.401G>A (p.Arg134His) rs768596252
NM_014908.3(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.3(DOLK):c.412A>G (p.Thr138Ala) rs933514904
NM_014908.3(DOLK):c.429C>G (p.Ile143Met) rs1261719011
NM_014908.3(DOLK):c.495C>A (p.Ile165=) rs149177994
NM_014908.3(DOLK):c.513T>C (p.Leu171=) rs886063514
NM_014908.3(DOLK):c.52G>A (p.Gly18Arg) rs777998210
NM_014908.3(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.3(DOLK):c.560G>T (p.Arg187Leu) rs377658203
NM_014908.3(DOLK):c.572C>A (p.Pro191His) rs767965852
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.703G>A (p.Val235Ile) rs759019995
NM_014908.3(DOLK):c.710T>C (p.Met237Thr) rs201363976
NM_014908.3(DOLK):c.767C>T (p.Ser256Phe) rs1186154711
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.807T>C (p.Gly269=) rs769294980
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys) rs766759178
NM_014908.3(DOLK):c.919C>T (p.Leu307=) rs927774250
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.3(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.*20G>A
NM_014908.4(DOLK):c.-15C>T
NM_014908.4(DOLK):c.-211C>T
NM_014908.4(DOLK):c.-22G>A
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
NM_014908.4(DOLK):c.1005C>T (p.Ile335=)
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
NM_014908.4(DOLK):c.1068G>A (p.Arg356=)
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) rs751762161
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) rs1280785615
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) rs1588262054
NM_014908.4(DOLK):c.1107C>T (p.Val369=)
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
NM_014908.4(DOLK):c.1143C>T (p.Ile381=)
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
NM_014908.4(DOLK):c.1176G>T (p.Leu392=)
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) rs973710719
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)
NM_014908.4(DOLK):c.1290T>G (p.Gly430=)
NM_014908.4(DOLK):c.129G>C (p.Ser43=)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133
NM_014908.4(DOLK):c.1359G>A (p.Val453=)
NM_014908.4(DOLK):c.1362C>T (p.Ala454=)
NM_014908.4(DOLK):c.1380C>T (p.Thr460=)
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043
NM_014908.4(DOLK):c.1395C>T (p.Arg465=)
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
NM_014908.4(DOLK):c.1434A>G (p.Thr478=)
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) rs183735415
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) rs746460508
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) rs367609050
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
NM_014908.4(DOLK):c.1597C>T (p.Leu533=)
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
NM_014908.4(DOLK):c.177G>A (p.Lys59=) rs747110969
NM_014908.4(DOLK):c.184C>A (p.Arg62=) rs533764998
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)
NM_014908.4(DOLK):c.18A>G (p.Pro6=)
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
NM_014908.4(DOLK):c.244T>C (p.Leu82=) rs1588262895
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
NM_014908.4(DOLK):c.24G>A (p.Pro8=)
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala)
NM_014908.4(DOLK):c.288G>A (p.Lys96=) rs771259120
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
NM_014908.4(DOLK):c.33G>A (p.Gly11=) rs375483505
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)
NM_014908.4(DOLK):c.380T>C (p.Val127Ala)
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
NM_014908.4(DOLK):c.387G>A (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.387G>C (p.Ala129=)
NM_014908.4(DOLK):c.426C>T (p.Val142=)
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301
NM_014908.4(DOLK):c.435C>T (p.Gly145=) rs781307203
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
NM_014908.4(DOLK):c.501C>T (p.Val167=) rs372024402
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
NM_014908.4(DOLK):c.621G>T (p.Gln207His)
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436
NM_014908.4(DOLK):c.679C>T (p.Leu227=)
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786
NM_014908.4(DOLK):c.731dup (p.Phe245fs) rs1588262474
NM_014908.4(DOLK):c.747C>T (p.Asp249=)
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)
NM_014908.4(DOLK):c.819C>T (p.Pro273=)
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del) rs773789842
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
NM_014908.4(DOLK):c.885C>T (p.Asp295=) rs762558659
NM_014908.4(DOLK):c.888C>G (p.Thr296=)
NM_014908.4(DOLK):c.894C>T (p.Ile298=) rs554098531
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) rs1244007975
NM_014908.4(DOLK):c.90G>A (p.Val30=)
NM_014908.4(DOLK):c.916C>T (p.Leu306=) rs1290357070
NM_014908.4(DOLK):c.975C>T (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
NM_014908.4(DOLK):c.999C>T (p.Pro333=)

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