ClinVar Miner

List of variants in gene NEK1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001199397.2(NEK1):c.1226G>A (p.Trp409Ter) rs985064686
NM_001199397.2(NEK1):c.1618C>T (p.Arg540Ter) rs758677637
NM_001199397.2(NEK1):c.1640dup (p.Asn547fs) rs483352907
NM_001199397.2(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001199397.2(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.2(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.2(NEK1):c.214+1G>A rs1049502301
NM_001199397.2(NEK1):c.2810_2813CAAA[1] (p.Asn938fs) rs752878896
NM_001199397.2(NEK1):c.2886-1G>A rs773496891
NM_001199397.2(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001199397.2(NEK1):c.379C>T (p.Arg127Ter) rs387906890
NM_001199397.2(NEK1):c.3830A>C (p.Asp1277Ala) rs1157065841
NM_001199397.2(NEK1):c.418G>A (p.Gly140Arg) rs1301705612
NM_001199397.2(NEK1):c.433G>A (p.Gly145Arg) rs431905508
NM_001199397.2(NEK1):c.514C>T (p.Pro172Ser) rs1554075506
NM_001199397.2(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.2(NEK1):c.869-1G>T rs794727032
NM_001199397.2(NEK1):c.869-2A>G rs483352906

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.