ClinVar Miner

List of variants in gene NEK1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.607-290G>A rs4692733 0.99912
NM_001199397.3(NEK1):c.1562+170_1562+171dup rs60346576 0.98682
NM_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_001199397.3(NEK1):c.2764+213C>T rs6553438 0.90381
NM_001199397.3(NEK1):c.2975-139G>A rs4692723 0.79893
NM_001199397.3(NEK1):c.2975-303T>C rs4692725 0.79881
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_001199397.3(NEK1):c.1081-111A>T rs10022479 0.73142
NM_001199397.3(NEK1):c.2885+220C>G rs13151656 0.70070
NM_001199397.3(NEK1):c.2140-195A>G rs6857243 0.46450
NM_001199397.3(NEK1):c.214+186G>A rs4692570 0.45088
NM_001199397.3(NEK1):c.3223-311T>C rs6835759 0.37030
NM_001199397.3(NEK1):c.3848-198C>T rs13131146 0.35931
NM_001199397.3(NEK1):c.1833+40G>A rs66509122 0.29801
NM_001199397.3(NEK1):c.606+124A>G rs9993493 0.29272
NM_001199397.3(NEK1):c.868+39A>G rs7670271 0.29253
NM_001199397.3(NEK1):c.868+143T>A rs7665092 0.29249
NM_001199397.3(NEK1):c.1562+299C>G rs10027406 0.29231
NM_001199397.3(NEK1):c.2140-69G>A rs67794467 0.29197
NM_001199397.3(NEK1):c.1912-48C>A rs6855803 0.28786
NM_001199397.3(NEK1):c.607-259T>C rs60579393 0.21463
NM_001199397.3(NEK1):c.1911+23G>T rs17054977 0.20092
NM_001199397.3(NEK1):c.3375-102G>A rs4478142 0.17096
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
NM_001199397.3(NEK1):c.552-270A>G rs72974758 0.09246
NM_001199397.3(NEK1):c.-48-89A>G rs4257622 0.09153
NM_001199397.3(NEK1):c.606+259A>G rs10007936 0.09143
NM_001199397.3(NEK1):c.1267-278A>G rs10022807 0.09114
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=) rs7655924 0.09091
NM_001199397.3(NEK1):c.1267-205C>G rs10028237 0.09049
NM_001199397.3(NEK1):c.869-252_869-250dup rs534302932 0.09048
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_001199397.3(NEK1):c.1020+288T>G rs79618700 0.07759
NM_001199397.3(NEK1):c.551+199G>T rs59269193 0.07752
NM_001199397.3(NEK1):c.1267-316T>C rs74593341 0.07742
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_001199397.3(NEK1):c.2588-66A>G rs76012666 0.06281
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.3583+230C>G rs76032116 0.05127
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001199397.3(NEK1):c.868+164C>T rs7686251 0.03158
NM_001199397.3(NEK1):c.2974+248C>G rs111471788 0.02402
NM_001199397.3(NEK1):c.869-40A>G rs74557505 0.02224
NM_001199397.3(NEK1):c.1749+197C>T rs114868487 0.02008
NM_001199397.3(NEK1):c.868+22G>A rs111989212 0.01670
NM_001199397.3(NEK1):c.312+195G>A rs76717142 0.01613
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_001199397.3(NEK1):c.2885+92A>G rs73864615 0.01518
NM_001199397.3(NEK1):c.1912-260A>T rs73867833 0.01427
NM_001199397.3(NEK1):c.1665+239G>A rs55741453 0.01424
NM_001199397.3(NEK1):c.396+131A>G rs6553443 0.01419
NM_001199397.3(NEK1):c.1911+86A>G rs145407222 0.01294
NM_001199397.3(NEK1):c.606+159C>T rs115529181 0.01281
NM_001199397.3(NEK1):c.1267-181G>T rs115624903 0.01280
NM_001199397.3(NEK1):c.1833+109G>A rs75602067 0.01221
NM_001199397.3(NEK1):c.3584-280T>A rs113997964 0.01203
NM_001199397.3(NEK1):c.1666-151T>C rs114016854 0.01116
NM_001199397.3(NEK1):c.1834-222G>A rs187185418 0.00888
NM_001199397.3(NEK1):c.117+95G>A rs137904860 0.00835
NM_001199397.3(NEK1):c.551+217T>C rs148867988 0.00779
NM_001199397.3(NEK1):c.396+41A>G rs114106978 0.00752
NM_001199397.3(NEK1):c.313-250C>T rs115368339 0.00751
NM_001199397.3(NEK1):c.868+87G>A rs76478554 0.00733
NM_001199397.3(NEK1):c.1665+306A>G rs186884729 0.00673
NM_001199397.3(NEK1):c.2140-158G>T rs149923703 0.00673
NM_001199397.3(NEK1):c.2008-140_2008-139insATA rs144585201 0.00578
NM_001199397.3(NEK1):c.2886-155T>G rs143112624 0.00562
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.869-98T>C rs150058797 0.00531
NM_001199397.3(NEK1):c.3375-174C>T rs139974241 0.00495
NM_001199397.3(NEK1):c.1834-85T>C rs116072569 0.00438
NM_001199397.3(NEK1):c.2885+142T>C rs75739350 0.00435
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001199397.3(NEK1):c.3223-161A>T rs147795888 0.00387
NM_001199397.3(NEK1):c.1563-152_1563-151del rs544535343 0.00379
NM_001199397.3(NEK1):c.-48-181T>A rs115462849 0.00323
NM_001199397.3(NEK1):c.1267-36A>G rs149763070 0.00305
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.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
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.618C>A (p.Gly206=) rs373174833 0.00066
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001199397.3(NEK1):c.214+6A>G rs375956427 0.00056
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala) rs371084271 0.00044
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=) rs200710438 0.00038
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344 0.00019
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=) rs756830252 0.00018
NM_001199397.3(NEK1):c.162A>G (p.Val54=) rs369056831 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=) rs757747641 0.00011
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.1080+20G>A rs192292678 0.00008
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu) rs371562840 0.00007
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg) rs369081861 0.00003
NM_001199397.3(NEK1):c.450T>C (p.Ala150=) rs1473425427 0.00003
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) rs773156346 0.00001
NM_001199397.3(NEK1):c.3768A>G (p.Gln1256=) rs938396882 0.00001
NM_001199397.3(NEK1):c.593C>T (p.Thr198Ile) rs1554075300 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NM_001199397.3(NEK1):c.869-1G>T rs794727032 0.00001
NM_001199397.3(NEK1):c.-48-245A>T rs187397276
NM_001199397.3(NEK1):c.-9A>G rs1057523759
NM_001199397.3(NEK1):c.1021-137del rs11381394
NM_001199397.3(NEK1):c.1021-147dup rs11381394
NM_001199397.3(NEK1):c.1021-81_1021-77del rs201948240
NM_001199397.3(NEK1):c.1081-102del rs34452581
NM_001199397.3(NEK1):c.1081-103_1081-102del rs34452581
NM_001199397.3(NEK1):c.1081-122dup rs141863651
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.117+88del rs74673353
NM_001199397.3(NEK1):c.1266+277G>A rs28446375
NM_001199397.3(NEK1):c.1266+277G>T rs28446375
NM_001199397.3(NEK1):c.1328A>G (p.Tyr443Cys)
NM_001199397.3(NEK1):c.1666-260C>G rs60370426
NM_001199397.3(NEK1):c.1833+158A>C rs66858776
NM_001199397.3(NEK1):c.1833+158A>T rs66858776
NM_001199397.3(NEK1):c.1912-68dup rs372604613
NM_001199397.3(NEK1):c.1912-69C>A rs11335570
NM_001199397.3(NEK1):c.1912-69del rs370525243
NM_001199397.3(NEK1):c.1912-70C>A rs28626053
NM_001199397.3(NEK1):c.1912-70_1912-69del rs370525243
NM_001199397.3(NEK1):c.1912-71_1912-70insAAA rs1437728267
NM_001199397.3(NEK1):c.2007+101del rs11335571
NM_001199397.3(NEK1):c.214+134A>T rs77826410
NM_001199397.3(NEK1):c.2159C>T (p.Thr720Ile)
NM_001199397.3(NEK1):c.2409A>G (p.Leu803=) rs1554043348
NM_001199397.3(NEK1):c.2434+69_2434+70del rs547487676
NM_001199397.3(NEK1):c.2588-12_2588-11del rs374055570
NM_001199397.3(NEK1):c.2765-57A>G rs13139925
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.3222+72A>T rs72691049
NM_001199397.3(NEK1):c.3223-120del rs568558279
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu) rs374890006
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) rs1732670701
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys) rs1064796596
NM_001199397.3(NEK1):c.3584-270del rs35743529
NM_001199397.3(NEK1):c.3584-281_3584-280dup rs35743529
NM_001199397.3(NEK1):c.3584-281dup rs35743529
NM_001199397.3(NEK1):c.3616G>T (p.Glu1206Ter) rs1554020563
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
NM_001199397.3(NEK1):c.397-15del rs199717920
NM_001199397.3(NEK1):c.397-15dup rs199717920
NM_001199397.3(NEK1):c.551+236G>A rs59387993
NM_001199397.3(NEK1):c.869-250dup rs34487354
NM_012224.2(NEK1):c.-614C>A rs10520157

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