ClinVar Miner

List of variants in gene NEK1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.618C>A (p.Gly206=) rs373174833 0.00066
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344 0.00019
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199397.3(NEK1):c.3420G>A (p.Ser1140=) rs772760832 0.00002
NM_001199397.3(NEK1):c.264G>A (p.Leu88=) rs780568580 0.00001
NM_001199397.3(NEK1):c.1122A>G (p.Glu374=)
NM_001199397.3(NEK1):c.1136A>G (p.Asp379Gly)
NM_001199397.3(NEK1):c.1385A>T (p.Glu462Val)
NM_001199397.3(NEK1):c.1438C>T (p.Leu480=)
NM_001199397.3(NEK1):c.2343_2344del (p.Ser782fs) rs2149549124
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys) rs1064796596
NM_001199397.3(NEK1):c.3581dup (p.Asp1195fs) rs1579301361
NM_001199397.3(NEK1):c.81C>T (p.Gly27=)
NM_001199397.3(NEK1):c.89A>G (p.Tyr30Cys)

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