ClinVar Miner

List of variants in gene NEK1 reported by Eurofins NTD LLC (GA)

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
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.782G>A (p.Arg261His) rs200161705 0.00216
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg) rs141491586 0.00056
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg) rs200619983 0.00038
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344 0.00019
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.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val) rs377203539 0.00006
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.2879A>G (p.Glu960Gly) rs913836342 0.00003
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) rs886042457 0.00002
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu) rs752582295 0.00001
NM_001199397.3(NEK1):c.869-1G>T rs794727032 0.00001
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.117+1G>A rs794727285
NM_001199397.3(NEK1):c.2944A>T (p.Thr982Ser) rs374918901
NM_001199397.3(NEK1):c.689A>G (p.Asp230Gly) rs886043126

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