ClinVar Miner

List of variants in gene NEK1 reported as likely benign for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
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.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.686A>G (p.Tyr229Cys) rs61737748 0.00062
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.*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.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.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.594A>G (p.Thr198=) rs373252814 0.00014
NM_001199397.3(NEK1):c.114A>T (p.Ser38=) rs778749876 0.00012
NM_001199397.3(NEK1):c.397-4A>G rs374280409 0.00012
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=) rs757747641 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.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.725A>T (p.Asn242Ile) rs562597839 0.00009
NM_001199397.3(NEK1):c.1750-6T>C rs187716707 0.00008
NM_001199397.3(NEK1):c.3093A>G (p.Gln1031=) rs760811823 0.00007
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=) rs886059225 0.00006
NM_001199397.3(NEK1):c.551+9A>G rs1469377437 0.00006
NM_001199397.3(NEK1):c.1021-8T>C rs748957277 0.00004
NM_001199397.3(NEK1):c.1728G>A (p.Lys576=) rs776189543 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.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.3715-6G>C rs771507979 0.00004
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.1500T>C (p.Ala500=) rs776664093 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.426A>G (p.Val142=) rs200769726 0.00003
NM_001199397.3(NEK1):c.450T>C (p.Ala150=) rs1473425427 0.00003
NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=) rs376870683 0.00002
NM_001199397.3(NEK1):c.99G>A (p.Lys33=) rs758301993 0.00002
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.1430+9A>G rs762293665 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.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.2251C>G (p.Gln751Glu) rs752582295 0.00001
NM_001199397.3(NEK1):c.2562A>C (p.Leu854=) rs773387212 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.3054G>C (p.Val1018=) rs142337223 0.00001
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=) rs886059227 0.00001
NM_001199397.3(NEK1):c.3240A>G (p.Ser1080=) rs772027178 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.3583+19G>A rs779325354 0.00001
NM_001199397.3(NEK1):c.468T>C (p.Thr156=) rs774944690 0.00001
NM_001199397.3(NEK1):c.552-13T>C rs1350487916 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.868+20A>G rs992277540 0.00001
NM_001199397.3(NEK1):c.87G>A (p.Gln29=) rs1018152335 0.00001
NM_001199397.3(NEK1):c.937G>A (p.Ala313Thr) rs775516158 0.00001
NM_001199397.3(NEK1):c.1017A>G (p.Lys339=) rs563173673
NM_001199397.3(NEK1):c.1020+20C>T
NM_001199397.3(NEK1):c.1021-15T>G
NM_001199397.3(NEK1):c.1029A>G (p.Gln343=)
NM_001199397.3(NEK1):c.1081-6_1081-3del rs751377061
NM_001199397.3(NEK1):c.1081-7dup
NM_001199397.3(NEK1):c.1107A>G (p.Glu369=)
NM_001199397.3(NEK1):c.1149T>C (p.Ser383=)
NM_001199397.3(NEK1):c.114A>G (p.Ser38=) rs778749876
NM_001199397.3(NEK1):c.1179A>G (p.Gln393=)
NM_001199397.3(NEK1):c.1191+13T>C
NM_001199397.3(NEK1):c.1191+20A>C
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.1238T>C (p.Leu413Pro) rs755724871
NM_001199397.3(NEK1):c.1242T>C (p.Ser414=)
NM_001199397.3(NEK1):c.1266+18A>G
NM_001199397.3(NEK1):c.1266+20A>G
NM_001199397.3(NEK1):c.1287A>T (p.Gly429=)
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1430+10T>C
NM_001199397.3(NEK1):c.1430+13_1430+14insA rs2149909733
NM_001199397.3(NEK1):c.1450C>G (p.Arg484Gly) rs183378326
NM_001199397.3(NEK1):c.1482T>C (p.His494=) rs1580735647
NM_001199397.3(NEK1):c.1767G>A (p.Leu589=)
NM_001199397.3(NEK1):c.1797G>A (p.Glu599=)
NM_001199397.3(NEK1):c.1800C>T (p.Arg600=)
NM_001199397.3(NEK1):c.1821T>C (p.Leu607=)
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)
NM_001199397.3(NEK1):c.1833+19T>C
NM_001199397.3(NEK1):c.1834-17del
NM_001199397.3(NEK1):c.183A>G (p.Pro61=)
NM_001199397.3(NEK1):c.1899C>T (p.Ile633=)
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.1912-5T>C
NM_001199397.3(NEK1):c.1944A>G (p.Lys648=)
NM_001199397.3(NEK1):c.1950A>G (p.Gln650=)
NM_001199397.3(NEK1):c.1995G>A (p.Val665=)
NM_001199397.3(NEK1):c.2008-5T>A
NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)
NM_001199397.3(NEK1):c.214+16C>T
NM_001199397.3(NEK1):c.2140-14A>G
NM_001199397.3(NEK1):c.215-4G>A
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2163G>A (p.Arg721=)
NM_001199397.3(NEK1):c.2193C>T (p.Asn731=) rs2149550010
NM_001199397.3(NEK1):c.2206-12C>T
NM_001199397.3(NEK1):c.2206-12_2206-10del
NM_001199397.3(NEK1):c.2358G>A (p.Lys786=)
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.2435-8T>C rs2149501678
NM_001199397.3(NEK1):c.2436A>G (p.Arg812=)
NM_001199397.3(NEK1):c.2451A>G (p.Glu817=) rs914051271
NM_001199397.3(NEK1):c.2505G>A (p.Pro835=)
NM_001199397.3(NEK1):c.2532A>G (p.Gly844=)
NM_001199397.3(NEK1):c.2587+16T>C
NM_001199397.3(NEK1):c.2587+18G>T
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.2796A>G (p.Gln932=)
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.2975-14C>T
NM_001199397.3(NEK1):c.3035A>C (p.Glu1012Ala)
NM_001199397.3(NEK1):c.3081C>A (p.Val1027=)
NM_001199397.3(NEK1):c.3081C>T (p.Val1027=)
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3204T>C (p.Phe1068=)
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.3289G>A (p.Val1097Ile) rs374890006
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu) rs374890006
NM_001199397.3(NEK1):c.3315T>C (p.Leu1105=)
NM_001199397.3(NEK1):c.3342C>T (p.Asn1114=)
NM_001199397.3(NEK1):c.3375-10T>A
NM_001199397.3(NEK1):c.3438G>A (p.Arg1146=)
NM_001199397.3(NEK1):c.3468A>G (p.Glu1156=)
NM_001199397.3(NEK1):c.3474G>A (p.Glu1158=) rs758717476
NM_001199397.3(NEK1):c.3579C>T (p.His1193=)
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.3715-12A>G
NM_001199397.3(NEK1):c.375T>C (p.Leu125=)
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.396+20A>G
NM_001199397.3(NEK1):c.397-10T>C
NM_001199397.3(NEK1):c.397-20T>G
NM_001199397.3(NEK1):c.397-5T>C
NM_001199397.3(NEK1):c.464+19T>G rs2150086593
NM_001199397.3(NEK1):c.464+8G>A
NM_001199397.3(NEK1):c.607-16A>T
NM_001199397.3(NEK1):c.681T>C (p.Tyr227=)
NM_001199397.3(NEK1):c.693C>G (p.Leu231=)
NM_001199397.3(NEK1):c.705G>T (p.Val235=)
NM_001199397.3(NEK1):c.808-20T>G
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.869-7C>T
NM_001199397.3(NEK1):c.891A>G (p.Gln297=) rs2150034399
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001199397.3(NEK1):c.936C>T (p.Ala312=)
NM_001199397.3(NEK1):c.990C>T (p.His330=)

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