ClinVar Miner

List of variants studied for Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178170.3(NEK8):c.889+18G>A rs141084448 0.00107
NM_178170.3(NEK8):c.1299+3G>T rs201629139 0.00087
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu) rs141599330 0.00048
NM_178170.3(NEK8):c.936G>A (p.Ser312=) rs146798411 0.00026
NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln) rs368453150 0.00024
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) rs199933041 0.00022
NM_178170.3(NEK8):c.1263G>A (p.Gly421=) rs147061645 0.00018
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) rs146989750 0.00014
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) rs199823733 0.00014
NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu) rs373048342 0.00013
NM_178170.3(NEK8):c.1632G>C (p.Val544=) rs766110309 0.00012
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys) rs146113045 0.00012
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys) rs752331372 0.00011
NM_178170.3(NEK8):c.889+17C>T rs577084302 0.00009
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser) rs368688884 0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) rs374175041 0.00006
NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) rs144859767 0.00006
NM_178170.3(NEK8):c.1992C>G (p.His664Gln) rs145275797 0.00006
NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln) rs199635350 0.00006
NM_178170.3(NEK8):c.976C>T (p.Arg326Trp) rs56286645 0.00006
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln) rs200972000 0.00006
NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu) rs149987249 0.00004
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) rs147625932 0.00004
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) rs199621354 0.00004
NM_178170.3(NEK8):c.269A>G (p.Glu90Gly) rs779113821 0.00004
NM_178170.3(NEK8):c.1179C>G (p.Ile393Met) rs775138270 0.00003
NM_178170.3(NEK8):c.1793G>A (p.Arg598His) rs771392691 0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00002
NM_178170.3(NEK8):c.1000G>A (p.Val334Met) rs771928671 0.00001
NM_178170.3(NEK8):c.1035C>T (p.Ala345=) rs751987503 0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178170.3(NEK8):c.1092C>T (p.Gly364=) rs201321032 0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) rs199853008 0.00001
NM_178170.3(NEK8):c.2010C>T (p.Ser670=) rs566162608 0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) rs746234904 0.00001
NM_178170.3(NEK8):c.857C>G (p.Thr286Arg) rs903553470 0.00001
NM_178170.3(NEK8):c.935C>T (p.Ser312Leu) rs200212844 0.00001
NM_178170.3(NEK8):c.985A>G (p.Met329Val) rs142234912 0.00001
NM_178170.3(NEK8):c.1071+13G>C rs775567721
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile) rs118111521

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.