ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_153240.5(NPHP3):c.*266G>A rs11708200
NM_153240.5(NPHP3):c.*657C>T rs79224795
NM_153240.5(NPHP3):c.*785G>A rs6774366
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=) rs1060504844
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449

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.