ClinVar Miner

List of variants in gene NEK1 reported as benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_001199397.3(NEK1):c.*495T>C rs1129694 0.37477
NM_001199397.3(NEK1):c.*710A>G rs13212 0.17144
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=) rs7655924 0.09091
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_001199397.3(NEK1):c.-528G>A rs75976017 0.07715
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr) rs33933790 0.05183
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_001199397.3(NEK1):c.*154G>A rs139328912 0.01356
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001199397.3(NEK1):c.*551A>T rs181225797 0.00360
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
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.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001199397.3(NEK1):c.1080+20G>A rs192292678 0.00008
NM_001199397.3(NEK1):c.2587+14G>T rs368032168 0.00004
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg) rs369081861 0.00003
NM_001199397.3(NEK1):c.1141-14T>C rs551259813 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.2206-11G>A
NM_001199397.3(NEK1):c.2588-12_2588-11del rs374055570
NM_001199397.3(NEK1):c.3374+10A>T
NM_001199397.3(NEK1):c.3848-14dup rs1171520560
NM_001199397.3(NEK1):c.397-15del rs199717920
NM_001199397.3(NEK1):c.397-15dup rs199717920
NM_001199397.3(NEK1):c.807+18T>C
NM_012224.2(NEK1):c.-614C>A rs10520157

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.