ClinVar Miner

List of variants in gene NEK1 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 79
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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.*156C>T rs886059224 0.00153
NM_001199397.3(NEK1):c.-289T>C rs776707093 0.00120
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.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
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.3583+8A>C rs192372022 0.00026
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 0.00024
NM_001199397.3(NEK1):c.*996G>A rs868452742 0.00019
NM_001199397.3(NEK1):c.*494A>G rs532868932 0.00016
NM_001199397.3(NEK1):c.*459A>C rs1038930121 0.00012
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.2421C>T (p.Phe807=) rs56346829 0.00009
NM_001199397.3(NEK1):c.1140+4G>A rs369300755 0.00007
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=) rs886059225 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.1080G>C (p.Glu360Asp) rs765591688 0.00004
NM_001199397.3(NEK1):c.2587+14G>T rs368032168 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.*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.1500T>C (p.Ala500=) rs776664093 0.00003
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser) rs61735896 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.2999A>C (p.His1000Pro) rs886059228 0.00003
NM_001199397.3(NEK1):c.1663A>G (p.Met555Val) rs766596184 0.00002
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg) rs375173827 0.00002
NM_001199397.3(NEK1):c.2765-5T>G rs201755208 0.00002
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser) rs778919560 0.00002
NM_001199397.3(NEK1):c.591T>C (p.Cys197=) rs755160503 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.1477G>C (p.Gly493Arg) rs997165654 0.00001
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln) rs1032792680 0.00001
NM_001199397.3(NEK1):c.1936G>A (p.Val646Ile) rs202231017 0.00001
NM_001199397.3(NEK1):c.2408T>C (p.Leu803Pro) rs1162454954 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.3405A>G (p.Gln1135=) rs774338352 0.00001
NM_001199397.3(NEK1):c.551+12G>T rs1237824437 0.00001
NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu) rs201587614 0.00001
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.1233T>C (p.Asn411=) rs886059234
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His) rs201793759
NM_001199397.3(NEK1):c.1476A>C (p.Ala492=) rs1322917520
NM_001199397.3(NEK1):c.1847A>G (p.His616Arg) rs886059233
NM_001199397.3(NEK1):c.1961A>T (p.Lys654Met) rs767789905
NM_001199397.3(NEK1):c.2096G>A (p.Arg699Lys) rs558787593
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer) rs750159428
NM_001199397.3(NEK1):c.2323C>G (p.His775Asp) rs200610485
NM_001199397.3(NEK1):c.238A>G (p.Met80Val) rs1770058884
NM_001199397.3(NEK1):c.2435-4A>G rs886059230
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3222+15C>A rs1246103461
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile) rs374890006
NM_001199397.3(NEK1):c.3374+14C>T rs886059226
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys) rs1064796596
NM_001199397.3(NEK1):c.397-15dup rs199717920
NM_001199397.3(NEK1):c.671C>T (p.Ser224Phe) rs886059235
NM_001199397.3(NEK1):c.901T>C (p.Ser301Pro) rs777255986

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