ClinVar Miner

List of variants in gene NEK1 reported as uncertain significance for not provided

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
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.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.*107A>G rs767808092 0.00035
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.1387G>A (p.Ala463Thr) rs748009953 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.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001199397.3(NEK1):c.2375G>A (p.Gly792Asp) rs200643637 0.00009
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.2474G>T (p.Gly825Val) rs377203539 0.00006
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu) rs779634939 0.00005
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.2879A>G (p.Glu960Gly) rs913836342 0.00004
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1663A>G (p.Met555Val) rs766596184 0.00002
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) rs886042457 0.00002
NM_001199397.3(NEK1):c.252G>A (p.Glu84=) rs752029300 0.00002
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu) rs752582295 0.00001
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr) rs772991635 0.00001
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys) rs191859401 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
GRCh37/hg19 4q33(chr4:170463445-170535958)x1
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.1136A>G (p.Asp379Gly)
NM_001199397.3(NEK1):c.1293_1296dup (p.Ala433fs) rs1355331355
NM_001199397.3(NEK1):c.1328A>G (p.Tyr443Cys)
NM_001199397.3(NEK1):c.1493C>G (p.Pro498Arg)
NM_001199397.3(NEK1):c.1513_1517del (p.Lys505fs) rs1256306738
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)
NM_001199397.3(NEK1):c.2159C>T (p.Thr720Ile)
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly) rs201726561
NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn) rs1017114230
NM_001199397.3(NEK1):c.2566G>A (p.Glu856Lys)
NM_001199397.3(NEK1):c.2584A>G (p.Ser862Gly)
NM_001199397.3(NEK1):c.2944A>T (p.Thr982Ser) rs374918901
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu) rs374890006
NM_001199397.3(NEK1):c.3422T>C (p.Met1141Thr) rs906114639
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys) rs1064796596
NM_001199397.3(NEK1):c.3581dup (p.Asp1195fs) rs1579301361
NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
NM_001199397.3(NEK1):c.689A>G (p.Asp230Gly) rs886043126
NM_001199397.3(NEK1):c.868G>C (p.Ala290Pro) rs1319026163
NM_001199397.3(NEK1):c.89A>G (p.Tyr30Cys)

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