ClinVar Miner

List of variants in gene NEK8 studied for inherited renal tubular disease

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_178170.3(NEK8):c.*388C>T rs1142899 0.40723
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797 0.16512
NM_178170.3(NEK8):c.*578A>C rs185303602 0.01535
NM_178170.3(NEK8):c.*637C>G rs114191927 0.01020
NM_178170.3(NEK8):c.*19T>C rs75850216 0.00876
NM_178170.3(NEK8):c.*430C>A rs4795455 0.00686
NM_178170.3(NEK8):c.2052G>A (p.Ser684=) rs145898152 0.00291
NM_178170.3(NEK8):c.*328C>T rs191309632 0.00265
NM_178170.3(NEK8):c.1237A>C (p.Met413Leu) rs141650477 0.00172
NM_178170.3(NEK8):c.618+12C>T rs11649957 0.00152
NM_178170.3(NEK8):c.*156G>A rs186791558 0.00138
NM_178170.3(NEK8):c.889+18G>A rs141084448 0.00107
NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro) rs146326420 0.00106
NM_178170.3(NEK8):c.1299+3G>T rs201629139 0.00087
NM_178170.3(NEK8):c.*344C>T rs537387525 0.00077
NM_178170.3(NEK8):c.*575A>C rs922057276 0.00063
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu) rs141599330 0.00048
NM_178170.3(NEK8):c.385C>T (p.Leu129Phe) rs201202318 0.00045
NM_178170.3(NEK8):c.899G>A (p.Arg300Gln) rs140077709 0.00039
NM_178170.3(NEK8):c.907G>A (p.Val303Met) rs78886485 0.00037
NM_178170.3(NEK8):c.1770C>T (p.His590=) rs183536507 0.00027
NM_178170.3(NEK8):c.*420C>T rs183805648 0.00026
NM_178170.3(NEK8):c.936G>A (p.Ser312=) rs146798411 0.00026
NM_178170.3(NEK8):c.2001G>A (p.Thr667=) rs192081177 0.00025
NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg) rs202102961 0.00024
NM_178170.3(NEK8):c.1938A>C (p.Gly646=) rs138629865 0.00024
NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln) rs368453150 0.00024
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) rs199933041 0.00022
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys) rs201548032 0.00022
NM_178170.3(NEK8):c.*381C>T rs540677227 0.00021
NM_178170.3(NEK8):c.294C>G (p.Ser98=) rs140255077 0.00019
NM_178170.3(NEK8):c.1263G>A (p.Gly421=) rs147061645 0.00018
NM_178170.3(NEK8):c.582C>T (p.Tyr194=) rs201773965 0.00016
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) rs146989750 0.00014
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) rs199823733 0.00014
NM_178170.3(NEK8):c.1464G>A (p.Gln488=) rs200147224 0.00014
NM_178170.3(NEK8):c.*421G>A rs886052770 0.00013
NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu) rs373048342 0.00013
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys) rs146113045 0.00012
NM_178170.3(NEK8):c.1148G>A (p.Arg383His) rs138066977 0.00011
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys) rs752331372 0.00011
NM_178170.3(NEK8):c.1043C>T (p.Thr348Met) rs376531637 0.00009
NM_178170.3(NEK8):c.889+17C>T rs577084302 0.00009
NM_178170.3(NEK8):c.*574A>C rs974940888 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_178170.3(NEK8):c.*480G>A rs528347456 0.00006
NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser) rs368688884 0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) rs374175041 0.00006
NM_178170.3(NEK8):c.1179C>G (p.Ile393Met) rs775138270 0.00006
NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) rs144859767 0.00006
NM_178170.3(NEK8):c.1539T>C (p.Pro513=) rs368315047 0.00006
NM_178170.3(NEK8):c.1992C>G (p.His664Gln) rs145275797 0.00006
NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln) rs199635350 0.00006
NM_178170.3(NEK8):c.976C>T (p.Arg326Trp) rs56286645 0.00006
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln) rs200972000 0.00006
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) rs773883764 0.00005
NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln) rs148904248 0.00005
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile) rs372172665 0.00004
NM_178170.3(NEK8):c.1251C>T (p.Ser417=) rs149239987 0.00004
NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu) rs149987249 0.00004
NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg) rs754159776 0.00004
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) rs147625932 0.00004
NM_178170.3(NEK8):c.2066C>T (p.Pro689Leu) rs777112980 0.00004
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) rs199621354 0.00004
NM_178170.3(NEK8):c.269A>G (p.Glu90Gly) rs779113821 0.00004
NM_178170.3(NEK8):c.801C>T (p.Thr267=) rs754756615 0.00004
NM_178170.3(NEK8):c.*763A>G rs886052772 0.00003
NM_178170.3(NEK8):c.48-10G>A rs769058088 0.00003
NM_178170.3(NEK8):c.9G>A (p.Lys3=) rs759474870 0.00003
NM_178170.3(NEK8):c.*526A>G rs1351907312 0.00002
NM_178170.3(NEK8):c.1177A>G (p.Ile393Val) rs371406871 0.00002
NM_178170.3(NEK8):c.1406G>A (p.Arg469His) rs762108966 0.00002
NM_178170.3(NEK8):c.1793G>A (p.Arg598His) rs771392691 0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_178170.3(NEK8):c.666T>C (p.Pro222=) rs768482115 0.00002
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00002
NM_178170.3(NEK8):c.*382G>A rs1039107679 0.00001
NM_178170.3(NEK8):c.*666C>T rs886052771 0.00001
NM_178170.3(NEK8):c.1000G>A (p.Val334Met) rs771928671 0.00001
NM_178170.3(NEK8):c.1035C>T (p.Ala345=) rs751987503 0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178170.3(NEK8):c.1045C>T (p.Arg349Cys) rs889694432 0.00001
NM_178170.3(NEK8):c.1078C>A (p.Pro360Thr) rs368688884 0.00001
NM_178170.3(NEK8):c.1092C>T (p.Gly364=) rs201321032 0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) rs199853008 0.00001
NM_178170.3(NEK8):c.1485G>A (p.Gln495=) rs371752114 0.00001
NM_178170.3(NEK8):c.1523T>A (p.Met508Lys) rs753200646 0.00001
NM_178170.3(NEK8):c.1732+19C>A rs534019850 0.00001
NM_178170.3(NEK8):c.1773A>G (p.Gly591=) rs777022361 0.00001
NM_178170.3(NEK8):c.186T>A (p.Asn62Lys) rs2034337294 0.00001
NM_178170.3(NEK8):c.1925G>A (p.Arg642Gln) rs1284135777 0.00001
NM_178170.3(NEK8):c.1997dup (p.Tyr666Ter) rs1226393603 0.00001
NM_178170.3(NEK8):c.2010C>T (p.Ser670=) rs566162608 0.00001
NM_178170.3(NEK8):c.2011G>A (p.Val671Met) rs202119105 0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) rs746234904 0.00001
NM_178170.3(NEK8):c.435C>T (p.Ile145=) rs773267212 0.00001
NM_178170.3(NEK8):c.444C>T (p.Phe148=) rs776495618 0.00001
NM_178170.3(NEK8):c.579C>T (p.Leu193=) rs756486155 0.00001
NM_178170.3(NEK8):c.654C>T (p.Gly218=) rs749113560 0.00001
NM_178170.3(NEK8):c.673G>C (p.Asp225His) rs1403766728 0.00001
NM_178170.3(NEK8):c.737G>A (p.Arg246Gln) rs368802852 0.00001
NM_178170.3(NEK8):c.827+20G>A rs375021668 0.00001
NM_178170.3(NEK8):c.828-1G>C rs749866369 0.00001
NM_178170.3(NEK8):c.857C>G (p.Thr286Arg) rs903553470 0.00001
NM_178170.3(NEK8):c.935C>T (p.Ser312Leu) rs200212844 0.00001
NM_178170.3(NEK8):c.984A>G (p.Pro328=) rs1335338134 0.00001
NM_178170.3(NEK8):c.985A>G (p.Met329Val) rs142234912 0.00001
NM_178170.3(NEK8):c.*163G>T rs886052768
NM_178170.3(NEK8):c.*338G>A rs555831494
NM_178170.3(NEK8):c.*396G>A rs886052769
NM_178170.3(NEK8):c.*474G>A rs112096840
NM_178170.3(NEK8):c.*523C>T rs149884715
NM_178170.3(NEK8):c.*582C>A rs114252148
NM_178170.3(NEK8):c.*759C>G rs1228540616
NM_178170.3(NEK8):c.1038C>T (p.Gly346=)
NM_178170.3(NEK8):c.1044G>A (p.Thr348=)
NM_178170.3(NEK8):c.1049C>T (p.Ser350Phe)
NM_178170.3(NEK8):c.1071+12del
NM_178170.3(NEK8):c.1071+13G>C rs775567721
NM_178170.3(NEK8):c.1071+17G>T
NM_178170.3(NEK8):c.1072-16C>A
NM_178170.3(NEK8):c.1076C>T (p.Pro359Leu) rs2034384900
NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg)
NM_178170.3(NEK8):c.1086T>A (p.Gly362=)
NM_178170.3(NEK8):c.1158G>A (p.Glu386=) rs1213574842
NM_178170.3(NEK8):c.1204T>C (p.Phe402Leu)
NM_178170.3(NEK8):c.1223-20C>T
NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn) rs778986582
NM_178170.3(NEK8):c.1245C>T (p.Phe415=)
NM_178170.3(NEK8):c.1273C>T (p.His425Tyr) rs118204032
NM_178170.3(NEK8):c.1300-13C>A rs371308377
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter)
NM_178170.3(NEK8):c.1332_1333dup (p.Met445fs) rs1567761332
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178170.3(NEK8):c.1368G>A (p.Leu456=)
NM_178170.3(NEK8):c.139G>T (p.Ala47Ser) rs1567759132
NM_178170.3(NEK8):c.1411G>A (p.Asp471Asn)
NM_178170.3(NEK8):c.1416C>G (p.Ser472Arg) rs750550396
NM_178170.3(NEK8):c.1418-1G>A
NM_178170.3(NEK8):c.1418-2A>C
NM_178170.3(NEK8):c.141del (p.Ala48fs) rs1567759133
NM_178170.3(NEK8):c.1439G>C (p.Arg480Thr)
NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr)
NM_178170.3(NEK8):c.1465G>A (p.Val489Met)
NM_178170.3(NEK8):c.1496G>A (p.Arg499Gln)
NM_178170.3(NEK8):c.1512C>T (p.Ile504=)
NM_178170.3(NEK8):c.1568+14C>T
NM_178170.3(NEK8):c.1696A>G (p.Ile566Val)
NM_178170.3(NEK8):c.1701C>T (p.Asp567=)
NM_178170.3(NEK8):c.1710T>C (p.Thr570=)
NM_178170.3(NEK8):c.1732+13T>G
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_178170.3(NEK8):c.1795C>G (p.Arg599Gly) rs375661404
NM_178170.3(NEK8):c.1892-20C>T
NM_178170.3(NEK8):c.1893G>A (p.Glu631=)
NM_178170.3(NEK8):c.1905C>T (p.Tyr635=)
NM_178170.3(NEK8):c.1923G>A (p.Ala641=)
NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter)
NM_178170.3(NEK8):c.1928G>A (p.Gly643Asp)
NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln)
NM_178170.3(NEK8):c.1956C>A (p.Ala652=) rs1471645717
NM_178170.3(NEK8):c.1965T>G (p.Pro655=)
NM_178170.3(NEK8):c.198C>T (p.Tyr66=)
NM_178170.3(NEK8):c.2016dup (p.Cys673fs) rs1567762509
NM_178170.3(NEK8):c.2050+19C>G
NM_178170.3(NEK8):c.2050+20A>G
NM_178170.3(NEK8):c.2050+3G>A rs780189365
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile) rs118111521
NM_178170.3(NEK8):c.2073C>G (p.Pro691=) rs750104979
NM_178170.3(NEK8):c.2075C>G (p.Pro692Arg)
NM_178170.3(NEK8):c.225C>T (p.Ala75=)
NM_178170.3(NEK8):c.234C>T (p.Ile78=)
NM_178170.3(NEK8):c.248C>T (p.Ala83Val)
NM_178170.3(NEK8):c.253+11C>T
NM_178170.3(NEK8):c.253+7C>T
NM_178170.3(NEK8):c.254-12C>T
NM_178170.3(NEK8):c.255C>T (p.Gly85=)
NM_178170.3(NEK8):c.284G>A (p.Arg95His)
NM_178170.3(NEK8):c.286T>C (p.Cys96Arg)
NM_178170.3(NEK8):c.287G>T (p.Cys96Phe)
NM_178170.3(NEK8):c.300G>A (p.Leu100=)
NM_178170.3(NEK8):c.312C>A (p.Thr104=)
NM_178170.3(NEK8):c.313A>G (p.Ile105Val)
NM_178170.3(NEK8):c.328G>A (p.Val110Met)
NM_178170.3(NEK8):c.339G>C (p.Leu113=) rs1555563821
NM_178170.3(NEK8):c.419G>A (p.Arg140His) rs141599330
NM_178170.3(NEK8):c.437G>T (p.Gly146Val) rs770564532
NM_178170.3(NEK8):c.47+17G>A
NM_178170.3(NEK8):c.47+20G>T
NM_178170.3(NEK8):c.478G>T (p.Ala160Ser)
NM_178170.3(NEK8):c.486G>A (p.Thr162=)
NM_178170.3(NEK8):c.487-9A>G
NM_178170.3(NEK8):c.506A>G (p.Tyr169Cys) rs2034352287
NM_178170.3(NEK8):c.57C>T (p.His19=)
NM_178170.3(NEK8):c.581A>C (p.Tyr194Ser) rs1060501399
NM_178170.3(NEK8):c.602G>C (p.Arg201Thr)
NM_178170.3(NEK8):c.609C>T (p.Phe203=)
NM_178170.3(NEK8):c.624G>A (p.Leu208=)
NM_178170.3(NEK8):c.650G>C (p.Ser217Thr)
NM_178170.3(NEK8):c.656C>A (p.Thr219Asn) rs1597806441
NM_178170.3(NEK8):c.743del (p.Pro248fs) rs1555564134
NM_178170.3(NEK8):c.750C>T (p.Ser250=)
NM_178170.3(NEK8):c.768C>G (p.Pro256=)
NM_178170.3(NEK8):c.779G>A (p.Arg260His)
NM_178170.3(NEK8):c.802G>A (p.Asp268Asn)
NM_178170.3(NEK8):c.827+18G>A
NM_178170.3(NEK8):c.828-4G>T
NM_178170.3(NEK8):c.841G>A (p.Val281Met)
NM_178170.3(NEK8):c.881G>A (p.Arg294His) rs762967348
NM_178170.3(NEK8):c.881G>T (p.Arg294Leu) rs762967348
NM_178170.3(NEK8):c.882_885del (p.Cys295fs) rs2151732872
NM_178170.3(NEK8):c.886A>G (p.Arg296Gly)
NM_178170.3(NEK8):c.889+15G>A
NM_178170.3(NEK8):c.889+2del rs1555564214
NM_178170.3(NEK8):c.890-20C>A
NM_178170.3(NEK8):c.906T>C (p.Pro302=)
NM_178170.3(NEK8):c.912G>A (p.Arg304=)
NM_178170.3(NEK8):c.972C>G (p.Pro324=) rs779393817
NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)

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