ClinVar Miner

List of variants in gene NEK1 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 550
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_001199397.3(NEK1):c.*495T>C rs1129694 0.37477
NM_001199397.3(NEK1):c.*710A>G rs13212 0.17144
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=) rs7655924 0.09091
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_001199397.3(NEK1):c.-528G>A rs75976017 0.07715
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr) rs33933790 0.05183
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_001199397.3(NEK1):c.*154G>A rs139328912 0.01356
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001199397.3(NEK1):c.*551A>T rs181225797 0.00360
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001199397.3(NEK1):c.*156C>T rs886059224 0.00153
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001199397.3(NEK1):c.-289T>C rs776707093 0.00120
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=) rs56252746 0.00080
NM_001199397.3(NEK1):c.*658A>G rs185294844 0.00073
NM_001199397.3(NEK1):c.-52T>C rs771331236 0.00067
NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp) rs201350526 0.00067
NM_001199397.3(NEK1):c.618C>A (p.Gly206=) rs373174833 0.00066
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
NM_001199397.3(NEK1):c.214+6A>G rs375956427 0.00056
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg) rs141491586 0.00056
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala) rs371084271 0.00044
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg) rs200619983 0.00038
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=) rs200710438 0.00038
NM_001199397.3(NEK1):c.*107A>G rs767808092 0.00035
NM_001199397.3(NEK1):c.*1222T>G rs543801862 0.00028
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 0.00024
NM_001199397.3(NEK1):c.2139+13A>G rs369548359 0.00024
NM_001199397.3(NEK1):c.3771T>C (p.Asn1257=) rs781165423 0.00024
NM_001199397.3(NEK1):c.*996G>A rs868452742 0.00019
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344 0.00019
NM_001199397.3(NEK1):c.1750-5T>C rs199522035 0.00018
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=) rs756830252 0.00018
NM_001199397.3(NEK1):c.-504T>C rs550632789 0.00017
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly) rs529024280 0.00017
NM_001199397.3(NEK1):c.2974G>A (p.Glu992Lys) rs369134166 0.00017
NM_001199397.3(NEK1):c.*494A>G rs532868932 0.00016
NM_001199397.3(NEK1):c.1141-19del rs773179397 0.00016
NM_001199397.3(NEK1):c.1192-17A>C rs112361330 0.00016
NM_001199397.3(NEK1):c.162A>G (p.Val54=) rs369056831 0.00014
NM_001199397.3(NEK1):c.2205+15C>T rs377301531 0.00014
NM_001199397.3(NEK1):c.292G>A (p.Val98Ile) rs115005766 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001199397.3(NEK1):c.*459A>C rs1038930121 0.00012
NM_001199397.3(NEK1):c.114A>T (p.Ser38=) rs778749876 0.00012
NM_001199397.3(NEK1):c.2224C>T (p.Arg742Cys) rs201200462 0.00012
NM_001199397.3(NEK1):c.397-4A>G rs374280409 0.00012
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001199397.3(NEK1):c.1278G>A (p.Leu426=) rs752431764 0.00011
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=) rs757747641 0.00011
NM_001199397.3(NEK1):c.2500A>T (p.Ser834Cys) rs187263822 0.00011
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=) rs184270885 0.00011
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 0.00011
NM_001199397.3(NEK1):c.*641T>C rs960594763 0.00010
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 0.00010
NM_001199397.3(NEK1):c.2375G>A (p.Gly792Asp) rs200643637 0.00009
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=) rs56346829 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199397.3(NEK1):c.725A>T (p.Asn242Ile) rs562597839 0.00009
NM_001199397.3(NEK1):c.1080+20G>A rs192292678 0.00008
NM_001199397.3(NEK1):c.1080+4T>C rs757527637 0.00008
NM_001199397.3(NEK1):c.1750-6T>C rs187716707 0.00008
NM_001199397.3(NEK1):c.1140+4G>A rs369300755 0.00007
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu) rs371562840 0.00007
NM_001199397.3(NEK1):c.3093A>G (p.Gln1031=) rs760811823 0.00007
NM_001199397.3(NEK1):c.2896A>G (p.Arg966Gly) rs369918838 0.00006
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys) rs751475605 0.00006
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=) rs886059225 0.00006
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter) rs202115635 0.00006
NM_001199397.3(NEK1):c.551+9A>G rs1469377437 0.00006
NM_001199397.3(NEK1):c.695G>A (p.Arg232His) rs772747361 0.00006
NM_001199397.3(NEK1):c.-499G>C rs763112279 0.00005
NM_001199397.3(NEK1):c.1427A>G (p.Glu476Gly) rs765781871 0.00005
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu) rs779634939 0.00005
NM_001199397.3(NEK1):c.2225G>A (p.Arg742His) rs778982890 0.00005
NM_001199397.3(NEK1):c.465-3T>C rs760376432 0.00005
NM_001199397.3(NEK1):c.1021-8T>C rs748957277 0.00004
NM_001199397.3(NEK1):c.1080G>C (p.Glu360Asp) rs765591688 0.00004
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001199397.3(NEK1):c.1728G>A (p.Lys576=) rs776189543 0.00004
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.2587+14G>T rs368032168 0.00004
NM_001199397.3(NEK1):c.3129T>C (p.Phe1043=) rs764822486 0.00004
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=) rs370713361 0.00004
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu) rs377607698 0.00004
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.3715-6G>C rs771507979 0.00004
NM_001199397.3(NEK1):c.*1062A>G rs1057222414 0.00003
NM_001199397.3(NEK1):c.*835A>G rs886059222 0.00003
NM_001199397.3(NEK1):c.-532A>G rs532947272 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1081-8T>A rs747743441 0.00003
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg) rs369081861 0.00003
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=) rs776664093 0.00003
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser) rs61735896 0.00003
NM_001199397.3(NEK1):c.192C>T (p.Val64=) rs777436964 0.00003
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=) rs760404694 0.00003
NM_001199397.3(NEK1):c.2294A>G (p.Glu765Gly) rs886059231 0.00003
NM_001199397.3(NEK1):c.2353C>T (p.Arg785Cys) rs374639577 0.00003
NM_001199397.3(NEK1):c.2815A>G (p.Lys939Glu) rs370930011 0.00003
NM_001199397.3(NEK1):c.2886G>A (p.Gln962=) rs770250819 0.00003
NM_001199397.3(NEK1):c.2999A>C (p.His1000Pro) rs886059228 0.00003
NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter) rs387906890 0.00003
NM_001199397.3(NEK1):c.426A>G (p.Val142=) rs200769726 0.00003
NM_001199397.3(NEK1):c.450T>C (p.Ala150=) rs1473425427 0.00003
NM_001199397.3(NEK1):c.1030A>G (p.Thr344Ala) rs780547342 0.00002
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) rs371575563 0.00002
NM_001199397.3(NEK1):c.1663A>G (p.Met555Val) rs766596184 0.00002
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg) rs375173827 0.00002
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) rs886042457 0.00002
NM_001199397.3(NEK1):c.2765-5T>G rs201755208 0.00002
NM_001199397.3(NEK1):c.3301C>T (p.Arg1101Cys) rs759413316 0.00002
NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp) rs1249604313 0.00002
NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=) rs376870683 0.00002
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser) rs778919560 0.00002
NM_001199397.3(NEK1):c.464+6A>G rs550184264 0.00002
NM_001199397.3(NEK1):c.591T>C (p.Cys197=) rs755160503 0.00002
NM_001199397.3(NEK1):c.99G>A (p.Lys33=) rs758301993 0.00002
NM_001199397.3(NEK1):c.*1155A>G rs1211514050 0.00001
NM_001199397.3(NEK1):c.*537T>G rs1194523176 0.00001
NM_001199397.3(NEK1):c.*806G>A rs886059223 0.00001
NM_001199397.3(NEK1):c.-441C>T rs886059236 0.00001
NM_001199397.3(NEK1):c.1028A>G (p.Gln343Arg) rs184254879 0.00001
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter) rs1482234746 0.00001
NM_001199397.3(NEK1):c.1141-14T>C rs551259813 0.00001
NM_001199397.3(NEK1):c.1206T>G (p.Asn402Lys) rs754999219 0.00001
NM_001199397.3(NEK1):c.1305A>G (p.Ser435=) rs765909757 0.00001
NM_001199397.3(NEK1):c.1335T>C (p.His445=) rs776957816 0.00001
NM_001199397.3(NEK1):c.1356A>G (p.Gln452=) rs529848109 0.00001
NM_001199397.3(NEK1):c.1420C>T (p.Leu474Phe) rs1182459740 0.00001
NM_001199397.3(NEK1):c.1430+9A>G rs762293665 0.00001
NM_001199397.3(NEK1):c.1477G>C (p.Gly493Arg) rs997165654 0.00001
NM_001199397.3(NEK1):c.1535C>T (p.Ala512Val) rs771824152 0.00001
NM_001199397.3(NEK1):c.1538T>C (p.Val513Ala) rs1217426330 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln) rs1032792680 0.00001
NM_001199397.3(NEK1):c.1822C>T (p.Arg608Cys) rs749461218 0.00001
NM_001199397.3(NEK1):c.1875G>A (p.Glu625=) rs777616611 0.00001
NM_001199397.3(NEK1):c.1912-18A>C rs766962190 0.00001
NM_001199397.3(NEK1):c.1936G>A (p.Val646Ile) rs202231017 0.00001
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) rs773156346 0.00001
NM_001199397.3(NEK1):c.2023G>A (p.Val675Ile) rs748009791 0.00001
NM_001199397.3(NEK1):c.2035G>A (p.Asp679Asn) rs1184211163 0.00001
NM_001199397.3(NEK1):c.2068G>A (p.Gly690Ser) rs754295018 0.00001
NM_001199397.3(NEK1):c.2085G>A (p.Lys695=) rs1439761503 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2162G>A (p.Arg721Gln) rs370106222 0.00001
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu) rs752582295 0.00001
NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val) rs1131690778 0.00001
NM_001199397.3(NEK1):c.2408T>C (p.Leu803Pro) rs1162454954 0.00001
NM_001199397.3(NEK1):c.2562A>C (p.Leu854=) rs773387212 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001199397.3(NEK1):c.2594C>A (p.Ser865Tyr) rs1373992801 0.00001
NM_001199397.3(NEK1):c.264G>A (p.Leu88=) rs780568580 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001199397.3(NEK1):c.2991T>G (p.Asp997Glu) rs752555915 0.00001
NM_001199397.3(NEK1):c.2991_2992insG (p.Ser998fs) rs763310804 0.00001
NM_001199397.3(NEK1):c.3054G>C (p.Val1018=) rs142337223 0.00001
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=) rs886059227 0.00001
NM_001199397.3(NEK1):c.3148C>T (p.Pro1050Ser) rs749326267 0.00001
NM_001199397.3(NEK1):c.3222+7A>G rs756853265 0.00001
NM_001199397.3(NEK1):c.3240A>G (p.Ser1080=) rs772027178 0.00001
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His) rs765205496 0.00001
NM_001199397.3(NEK1):c.3354A>C (p.Gly1118=) rs758692344 0.00001
NM_001199397.3(NEK1):c.3375-12T>C rs1369688897 0.00001
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=) rs774338352 0.00001
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr) rs772991635 0.00001
NM_001199397.3(NEK1):c.3583+19G>A rs779325354 0.00001
NM_001199397.3(NEK1):c.3664G>A (p.Glu1222Lys) rs1219156888 0.00001
NM_001199397.3(NEK1):c.368A>C (p.Lys123Thr) rs1561472203 0.00001
NM_001199397.3(NEK1):c.3793C>T (p.His1265Tyr) rs747009789 0.00001
NM_001199397.3(NEK1):c.3830A>G (p.Asp1277Gly) rs1157065841 0.00001
NM_001199397.3(NEK1):c.3847+6A>G rs777525553 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199397.3(NEK1):c.460A>T (p.Asn154Tyr) rs756418625 0.00001
NM_001199397.3(NEK1):c.468T>C (p.Thr156=) rs774944690 0.00001
NM_001199397.3(NEK1):c.551+12G>T rs1237824437 0.00001
NM_001199397.3(NEK1):c.552-13T>C rs1350487916 0.00001
NM_001199397.3(NEK1):c.641A>G (p.Lys214Arg) rs1309738215 0.00001
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys) rs191859401 0.00001
NM_001199397.3(NEK1):c.807+16T>C rs918992197 0.00001
NM_001199397.3(NEK1):c.807+8C>A rs1240742692 0.00001
NM_001199397.3(NEK1):c.80G>A (p.Gly27Asp) rs1419433113 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NM_001199397.3(NEK1):c.868+20A>G rs992277540 0.00001
NM_001199397.3(NEK1):c.869-1G>T rs794727032 0.00001
NM_001199397.3(NEK1):c.87G>A (p.Gln29=) rs1018152335 0.00001
NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu) rs201587614 0.00001
NM_001199397.3(NEK1):c.937G>A (p.Ala313Thr) rs775516158 0.00001
NM_001199397.3(NEK1):c.966G>C (p.Lys322Asn) rs1419138752 0.00001
NC_000004.11:g.(?_170482611)_(170483367_?)del
NC_000004.11:g.(?_170482611)_(170523781_?)dup
NM_001199397.3(NEK1):c.*354A>T rs1730320778
NM_001199397.3(NEK1):c.*758T>A rs1730272463
NM_001199397.3(NEK1):c.-275A>G rs546452146
NM_001199397.3(NEK1):c.1017A>G (p.Lys339=) rs563173673
NM_001199397.3(NEK1):c.1020+1G>A
NM_001199397.3(NEK1):c.1020+20C>T
NM_001199397.3(NEK1):c.1020+4T>C
NM_001199397.3(NEK1):c.1021-15T>G
NM_001199397.3(NEK1):c.1029A>G (p.Gln343=)
NM_001199397.3(NEK1):c.1066A>T (p.Arg356Trp)
NM_001199397.3(NEK1):c.1075T>A (p.Ser359Thr)
NM_001199397.3(NEK1):c.1080+3A>G
NM_001199397.3(NEK1):c.1081-6_1081-3del rs751377061
NM_001199397.3(NEK1):c.1081-7dup
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)
NM_001199397.3(NEK1):c.1107A>G (p.Glu369=)
NM_001199397.3(NEK1):c.1126A>G (p.Lys376Glu)
NM_001199397.3(NEK1):c.1140+3A>C
NM_001199397.3(NEK1):c.1142T>A (p.Ile381Asn)
NM_001199397.3(NEK1):c.1149T>C (p.Ser383=)
NM_001199397.3(NEK1):c.114A>G (p.Ser38=) rs778749876
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs)
NM_001199397.3(NEK1):c.117+1G>A rs794727285
NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)
NM_001199397.3(NEK1):c.1179A>G (p.Gln393=)
NM_001199397.3(NEK1):c.118-1G>A
NM_001199397.3(NEK1):c.1187A>G (p.Glu396Gly)
NM_001199397.3(NEK1):c.1191+13T>C
NM_001199397.3(NEK1):c.1191+20A>C
NM_001199397.3(NEK1):c.1191+5G>A
NM_001199397.3(NEK1):c.1191+8G>A
NM_001199397.3(NEK1):c.1192-13C>G
NM_001199397.3(NEK1):c.1192-6C>T
NM_001199397.3(NEK1):c.1198del (p.Arg400fs)
NM_001199397.3(NEK1):c.1208G>A (p.Arg403Lys)
NM_001199397.3(NEK1):c.120G>A (p.Met40Ile)
NM_001199397.3(NEK1):c.1233T>C (p.Asn411=) rs886059234
NM_001199397.3(NEK1):c.1238T>C (p.Leu413Pro) rs755724871
NM_001199397.3(NEK1):c.1242T>C (p.Ser414=)
NM_001199397.3(NEK1):c.1243G>A (p.Ala415Thr)
NM_001199397.3(NEK1):c.1249G>A (p.Gly417Arg)
NM_001199397.3(NEK1):c.1266+18A>G
NM_001199397.3(NEK1):c.1266+20A>G
NM_001199397.3(NEK1):c.1267-11T>G
NM_001199397.3(NEK1):c.1287A>G (p.Gly429=)
NM_001199397.3(NEK1):c.1287A>T (p.Gly429=)
NM_001199397.3(NEK1):c.1294A>G (p.Ile432Val)
NM_001199397.3(NEK1):c.1301C>A (p.Pro434Gln)
NM_001199397.3(NEK1):c.1319G>A (p.Arg440Gln)
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1352A>G (p.Asp451Gly)
NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)
NM_001199397.3(NEK1):c.1412G>A (p.Gly471Asp) rs1418453971
NM_001199397.3(NEK1):c.1429A>G (p.Arg477Gly)
NM_001199397.3(NEK1):c.1430+10T>C
NM_001199397.3(NEK1):c.1430+13_1430+14insA rs2149909733
NM_001199397.3(NEK1):c.1430+19_1430+20delinsAG
NM_001199397.3(NEK1):c.1438C>G (p.Leu480Val)
NM_001199397.3(NEK1):c.1450C>G (p.Arg484Gly) rs183378326
NM_001199397.3(NEK1):c.1450C>T (p.Arg484Cys)
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His) rs201793759
NM_001199397.3(NEK1):c.1463C>T (p.Pro488Leu)
NM_001199397.3(NEK1):c.1469G>A (p.Gly490Glu)
NM_001199397.3(NEK1):c.1476A>C (p.Ala492=) rs1322917520
NM_001199397.3(NEK1):c.1478G>A (p.Gly493Asp)
NM_001199397.3(NEK1):c.1482T>C (p.His494=) rs1580735647
NM_001199397.3(NEK1):c.1496A>T (p.Asp499Val) rs1762076570
NM_001199397.3(NEK1):c.1509T>G (p.Ile503Met)
NM_001199397.3(NEK1):c.1520T>C (p.Leu507Ser)
NM_001199397.3(NEK1):c.1553A>C (p.Asn518Thr)
NM_001199397.3(NEK1):c.1553A>G (p.Asn518Ser)
NM_001199397.3(NEK1):c.1562+20T>G rs2149908317
NM_001199397.3(NEK1):c.1562+2T>G
NM_001199397.3(NEK1):c.1573C>A (p.Gln525Lys)
NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter) rs1758763118
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
NM_001199397.3(NEK1):c.1633A>T (p.Met545Leu) rs1369670600
NM_001199397.3(NEK1):c.1634T>C (p.Met545Thr)
NM_001199397.3(NEK1):c.1634T>G (p.Met545Arg)
NM_001199397.3(NEK1):c.1639A>G (p.Asn547Asp)
NM_001199397.3(NEK1):c.1640dup (p.Asn547fs) rs483352907
NM_001199397.3(NEK1):c.1649G>A (p.Arg550Gln) rs767374907
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001199397.3(NEK1):c.1753T>C (p.Tyr585His)
NM_001199397.3(NEK1):c.1767G>A (p.Leu589=)
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1787A>G (p.Asn596Ser)
NM_001199397.3(NEK1):c.1797G>A (p.Glu599=)
NM_001199397.3(NEK1):c.1798C>T (p.Arg600Cys)
NM_001199397.3(NEK1):c.1800C>T (p.Arg600=)
NM_001199397.3(NEK1):c.1816A>G (p.Lys606Glu)
NM_001199397.3(NEK1):c.1821T>C (p.Leu607=)
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)
NM_001199397.3(NEK1):c.1829_1830delinsGG (p.Glu610Gly)
NM_001199397.3(NEK1):c.1833+19T>C
NM_001199397.3(NEK1):c.1833+1G>T
NM_001199397.3(NEK1):c.1834-11T>A
NM_001199397.3(NEK1):c.1834-17del
NM_001199397.3(NEK1):c.183A>G (p.Pro61=)
NM_001199397.3(NEK1):c.1843A>G (p.Asn615Asp)
NM_001199397.3(NEK1):c.1847A>G (p.His616Arg) rs886059233
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1888C>T (p.Arg630Cys)
NM_001199397.3(NEK1):c.1889G>A (p.Arg630His)
NM_001199397.3(NEK1):c.1899C>T (p.Ile633=)
NM_001199397.3(NEK1):c.1900G>A (p.Glu634Lys)
NM_001199397.3(NEK1):c.1905A>G (p.Ser635=)
NM_001199397.3(NEK1):c.1911+19dup
NM_001199397.3(NEK1):c.1911+20C>A
NM_001199397.3(NEK1):c.1911+20C>T
NM_001199397.3(NEK1):c.1911+3A>G
NM_001199397.3(NEK1):c.1911+6G>C
NM_001199397.3(NEK1):c.1911G>A (p.Lys637=)
NM_001199397.3(NEK1):c.1912-5T>C
NM_001199397.3(NEK1):c.1916A>C (p.His639Pro) rs1295340811
NM_001199397.3(NEK1):c.1942_1944delinsGGG (p.Lys648Gly)
NM_001199397.3(NEK1):c.1944A>G (p.Lys648=)
NM_001199397.3(NEK1):c.1945_1951del (p.Lys648_Glu649insTer)
NM_001199397.3(NEK1):c.1948C>A (p.Gln650Lys) rs1753405258
NM_001199397.3(NEK1):c.194A>G (p.Gln65Arg) rs1770585618
NM_001199397.3(NEK1):c.1950A>G (p.Gln650=)
NM_001199397.3(NEK1):c.1952T>G (p.Leu651Arg)
NM_001199397.3(NEK1):c.1958G>A (p.Arg653Gln)
NM_001199397.3(NEK1):c.1961A>T (p.Lys654Met) rs767789905
NM_001199397.3(NEK1):c.1967AGG[1] (p.Glu657del)
NM_001199397.3(NEK1):c.1984dup (p.Glu662fs) rs2149690411
NM_001199397.3(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001199397.3(NEK1):c.1995G>A (p.Val665=)
NM_001199397.3(NEK1):c.2008-5T>A
NM_001199397.3(NEK1):c.2010_2011del (p.Leu670fs)
NM_001199397.3(NEK1):c.2042C>T (p.Ser681Phe)
NM_001199397.3(NEK1):c.2060A>G (p.His687Arg)
NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter) rs2149558070
NM_001199397.3(NEK1):c.2096G>A (p.Arg699Lys) rs558787593
NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)
NM_001199397.3(NEK1):c.2125A>G (p.Lys709Glu)
NM_001199397.3(NEK1):c.2126A>G (p.Lys709Arg)
NM_001199397.3(NEK1):c.2137G>T (p.Val713Leu) rs199827465
NM_001199397.3(NEK1):c.213del (p.Glu72fs) rs2150139071
NM_001199397.3(NEK1):c.214+16C>T
NM_001199397.3(NEK1):c.2140-14A>G
NM_001199397.3(NEK1):c.2146A>G (p.Ser716Gly)
NM_001199397.3(NEK1):c.215-4G>A
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly) rs201726561
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2163G>A (p.Arg721=)
NM_001199397.3(NEK1):c.2190del (p.Asn731fs) rs746591648
NM_001199397.3(NEK1):c.2193C>T (p.Asn731=) rs2149550010
NM_001199397.3(NEK1):c.2194A>G (p.Asn732Asp)
NM_001199397.3(NEK1):c.2200A>G (p.Ile734Val)
NM_001199397.3(NEK1):c.2206-11G>A
NM_001199397.3(NEK1):c.2206-12C>T
NM_001199397.3(NEK1):c.2206-12_2206-10del
NM_001199397.3(NEK1):c.2213G>A (p.Arg738Gln)
NM_001199397.3(NEK1):c.2243T>G (p.Leu748Arg)
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer) rs750159428
NM_001199397.3(NEK1):c.2282_2283dup (p.Asp762fs)
NM_001199397.3(NEK1):c.2310A>C (p.Glu770Asp)
NM_001199397.3(NEK1):c.2323C>T (p.His775Tyr)
NM_001199397.3(NEK1):c.2344T>G (p.Ser782Ala)
NM_001199397.3(NEK1):c.2354G>A (p.Arg785His)
NM_001199397.3(NEK1):c.2358G>A (p.Lys786=)
NM_001199397.3(NEK1):c.2371G>A (p.Gly791Arg)
NM_001199397.3(NEK1):c.238A>G (p.Met80Val) rs1770058884
NM_001199397.3(NEK1):c.2390C>T (p.Pro797Leu)
NM_001199397.3(NEK1):c.2415A>T (p.Thr805=)
NM_001199397.3(NEK1):c.2434+10G>T
NM_001199397.3(NEK1):c.2435-15A>G
NM_001199397.3(NEK1):c.2435-16T>C
NM_001199397.3(NEK1):c.2435-3T>C
NM_001199397.3(NEK1):c.2435-4A>G rs886059230
NM_001199397.3(NEK1):c.2435-8T>C rs2149501678
NM_001199397.3(NEK1):c.2436A>G (p.Arg812=)
NM_001199397.3(NEK1):c.2438A>G (p.His813Arg)
NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn) rs1017114230
NM_001199397.3(NEK1):c.2451A>G (p.Glu817=) rs914051271
NM_001199397.3(NEK1):c.2489C>T (p.Ala830Val)
NM_001199397.3(NEK1):c.2505G>A (p.Pro835=)
NM_001199397.3(NEK1):c.2532A>G (p.Gly844=)
NM_001199397.3(NEK1):c.257G>A (p.Gly86Glu)
NM_001199397.3(NEK1):c.2587+16T>C
NM_001199397.3(NEK1):c.2587+18G>T
NM_001199397.3(NEK1):c.2587+3A>G
NM_001199397.3(NEK1):c.2588-12_2588-11del rs374055570
NM_001199397.3(NEK1):c.2588-4A>C
NM_001199397.3(NEK1):c.2599G>A (p.Glu867Lys)
NM_001199397.3(NEK1):c.2650_2651insCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTACAATGTA (p.Cys883_Ile884insThrCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysValGlnCys)
NM_001199397.3(NEK1):c.2715C>G (p.Phe905Leu) rs2149425544
NM_001199397.3(NEK1):c.2725T>A (p.Ser909Thr)
NM_001199397.3(NEK1):c.2736G>A (p.Met912Ile)
NM_001199397.3(NEK1):c.2764+11A>G
NM_001199397.3(NEK1):c.2764+12T>C
NM_001199397.3(NEK1):c.2765-15G>A
NM_001199397.3(NEK1):c.2765-16C>T rs746322641
NM_001199397.3(NEK1):c.2765-17dup rs1737847989
NM_001199397.3(NEK1):c.2771A>G (p.Asp924Gly)
NM_001199397.3(NEK1):c.2796A>G (p.Gln932=)
NM_001199397.3(NEK1):c.2797G>A (p.Glu933Lys) rs1482298810
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2825G>A (p.Ser942Asn) rs2149410432
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.2894A>T (p.Asp965Val) rs2111355616
NM_001199397.3(NEK1):c.2939C>T (p.Ser980Leu)
NM_001199397.3(NEK1):c.2972_2973del (p.Ile991fs) rs2111354717
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.2974+1G>T rs1561165983
NM_001199397.3(NEK1):c.2974+5G>A
NM_001199397.3(NEK1):c.2975-14C>T
NM_001199397.3(NEK1):c.3035A>C (p.Glu1012Ala)
NM_001199397.3(NEK1):c.3072G>C (p.Leu1024Phe)
NM_001199397.3(NEK1):c.3081C>A (p.Val1027=)
NM_001199397.3(NEK1):c.3081C>T (p.Val1027=)
NM_001199397.3(NEK1):c.3086A>G (p.Gln1029Arg)
NM_001199397.3(NEK1):c.3092A>G (p.Gln1031Arg)
NM_001199397.3(NEK1):c.309T>A (p.Asp103Glu)
NM_001199397.3(NEK1):c.3102G>T (p.Gln1034His)
NM_001199397.3(NEK1):c.3121T>C (p.Phe1041Leu)
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3154A>G (p.Lys1052Glu)
NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter) rs2111335168
NM_001199397.3(NEK1):c.3204T>C (p.Phe1068=)
NM_001199397.3(NEK1):c.3222+15C>A rs1246103461
NM_001199397.3(NEK1):c.3222+16A>C
NM_001199397.3(NEK1):c.3222+17A>C
NM_001199397.3(NEK1):c.3234A>G (p.Thr1078=)
NM_001199397.3(NEK1):c.3275T>C (p.Met1092Thr) rs1286963475
NM_001199397.3(NEK1):c.3283C>G (p.Pro1095Ala)
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile) rs374890006
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu) rs374890006
NM_001199397.3(NEK1):c.3302G>A (p.Arg1101His)
NM_001199397.3(NEK1):c.3311A>G (p.Asn1104Ser)
NM_001199397.3(NEK1):c.3315T>C (p.Leu1105=)
NM_001199397.3(NEK1):c.3335A>C (p.Asp1112Ala)
NM_001199397.3(NEK1):c.3335A>G (p.Asp1112Gly)
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) rs1732670701
NM_001199397.3(NEK1):c.3342C>T (p.Asn1114=)
NM_001199397.3(NEK1):c.3343A>C (p.Ile1115Leu)
NM_001199397.3(NEK1):c.3374+10A>T
NM_001199397.3(NEK1):c.3374+14C>T rs886059226
NM_001199397.3(NEK1):c.3374+5G>A rs1167084363
NM_001199397.3(NEK1):c.3375-10T>A
NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His) rs2111032650
NM_001199397.3(NEK1):c.3395C>T (p.Thr1132Ile)
NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro) rs1554020960
NM_001199397.3(NEK1):c.3438G>A (p.Arg1146=)
NM_001199397.3(NEK1):c.344C>T (p.Ala115Val) rs1581011769
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys) rs1064796596
NM_001199397.3(NEK1):c.3465AGA[2] (p.Glu1158del)
NM_001199397.3(NEK1):c.3468A>G (p.Glu1156=)
NM_001199397.3(NEK1):c.3474G>A (p.Glu1158=) rs758717476
NM_001199397.3(NEK1):c.3542A>G (p.Asn1181Ser) rs766289659
NM_001199397.3(NEK1):c.3568G>A (p.Glu1190Lys)
NM_001199397.3(NEK1):c.3579C>T (p.His1193=)
NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)
NM_001199397.3(NEK1):c.3584-11T>C
NM_001199397.3(NEK1):c.3584-19_3584-15del
NM_001199397.3(NEK1):c.3584-20A>C
NM_001199397.3(NEK1):c.3584A>T (p.Asp1195Val)
NM_001199397.3(NEK1):c.3595G>A (p.Gly1199Ser)
NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)
NM_001199397.3(NEK1):c.3710T>C (p.Ile1237Thr)
NM_001199397.3(NEK1):c.3715-12A>G
NM_001199397.3(NEK1):c.3715-7G>A
NM_001199397.3(NEK1):c.3726del (p.Asp1243fs)
NM_001199397.3(NEK1):c.3727G>A (p.Asp1243Asn)
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
NM_001199397.3(NEK1):c.375T>C (p.Leu125=)
NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs) rs2111007067
NM_001199397.3(NEK1):c.3770A>G (p.Asn1257Ser)
NM_001199397.3(NEK1):c.3772A>G (p.Ile1258Val)
NM_001199397.3(NEK1):c.3783T>G (p.Asn1261Lys)
NM_001199397.3(NEK1):c.3794A>G (p.His1265Arg)
NM_001199397.3(NEK1):c.3806A>T (p.Lys1269Met)
NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala) rs1157065841
NM_001199397.3(NEK1):c.3843A>G (p.Gln1281=)
NM_001199397.3(NEK1):c.3847+13C>T
NM_001199397.3(NEK1):c.3847+16_3847+17del
NM_001199397.3(NEK1):c.3848-14dup rs1171520560
NM_001199397.3(NEK1):c.3850A>G (p.Asn1284Asp)
NM_001199397.3(NEK1):c.396+20A>G
NM_001199397.3(NEK1):c.397-10T>C
NM_001199397.3(NEK1):c.397-15del rs199717920
NM_001199397.3(NEK1):c.397-15dup rs199717920
NM_001199397.3(NEK1):c.397-20T>G
NM_001199397.3(NEK1):c.397-5T>C
NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg) rs431905508
NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter)
NM_001199397.3(NEK1):c.464+19T>G rs2150086593
NM_001199397.3(NEK1):c.464+8G>A
NM_001199397.3(NEK1):c.465T>C (p.Ser155=) rs1234437874
NM_001199397.3(NEK1):c.482G>A (p.Arg161Gln)
NM_001199397.3(NEK1):c.488G>C (p.Cys163Ser)
NM_001199397.3(NEK1):c.490A>G (p.Ile164Val)
NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser) rs1554075506
NM_001199397.3(NEK1):c.52G>A (p.Ala18Thr)
NM_001199397.3(NEK1):c.535C>G (p.Pro179Ala)
NM_001199397.3(NEK1):c.58C>T (p.Leu20Phe) rs2150141098
NM_001199397.3(NEK1):c.593C>A (p.Thr198Lys)
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.3(NEK1):c.602del (p.His201fs) rs2150079083
NM_001199397.3(NEK1):c.604G>T (p.Ala202Ser) rs780091818
NM_001199397.3(NEK1):c.606+1G>C
NM_001199397.3(NEK1):c.607-16A>T
NM_001199397.3(NEK1):c.644T>G (p.Ile215Arg)
NM_001199397.3(NEK1):c.671C>T (p.Ser224Phe) rs886059235
NM_001199397.3(NEK1):c.676C>T (p.His226Tyr)
NM_001199397.3(NEK1):c.67T>C (p.Ser23Pro)
NM_001199397.3(NEK1):c.681T>C (p.Tyr227=)
NM_001199397.3(NEK1):c.693C>G (p.Leu231=)
NM_001199397.3(NEK1):c.694C>T (p.Arg232Cys)
NM_001199397.3(NEK1):c.705G>T (p.Val235=)
NM_001199397.3(NEK1):c.715T>G (p.Phe239Val) rs2150071108
NM_001199397.3(NEK1):c.77A>G (p.Asp26Gly)
NM_001199397.3(NEK1):c.782G>T (p.Arg261Leu)
NM_001199397.3(NEK1):c.807+18T>C
NM_001199397.3(NEK1):c.808-20T>G
NM_001199397.3(NEK1):c.842C>T (p.Ser281Leu)
NM_001199397.3(NEK1):c.843G>A (p.Ser281=)
NM_001199397.3(NEK1):c.869-13T>C
NM_001199397.3(NEK1):c.869-14A>G
NM_001199397.3(NEK1):c.869-2A>G rs483352906
NM_001199397.3(NEK1):c.869-7C>T
NM_001199397.3(NEK1):c.887G>A (p.Gly296Glu)
NM_001199397.3(NEK1):c.891A>G (p.Gln297=) rs2150034399
NM_001199397.3(NEK1):c.893del (p.Asn298fs) rs1765802748
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001199397.3(NEK1):c.8A>G (p.Lys3Arg) rs2150141268
NM_001199397.3(NEK1):c.901T>C (p.Ser301Pro) rs777255986
NM_001199397.3(NEK1):c.904G>C (p.Val302Leu)
NM_001199397.3(NEK1):c.934del (p.Ala312fs) rs2150034070
NM_001199397.3(NEK1):c.936C>T (p.Ala312=)
NM_001199397.3(NEK1):c.953C>T (p.Pro318Leu)
NM_001199397.3(NEK1):c.984del (p.Lys328fs) rs1432921892
NM_001199397.3(NEK1):c.990C>T (p.His330=)
NM_001199397.3(NEK1):c.[1226G>A];[1948del]
NM_012224.2(NEK1):c.-614C>A rs10520157

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