ClinVar Miner

List of variants in gene NPHP1 reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_110123771)_(110204988_?)dup
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
NM_000272.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.3(NPHP1):c.1437+9G>A rs13414551
NM_000272.3(NPHP1):c.1438-4C>T rs151204566
NM_000272.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.3(NPHP1):c.438T>C (p.Asn146=) rs548684868
NM_000272.3(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000272.3(NPHP1):c.810C>T (p.Cys270=) rs73954628

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.