List of variants in gene NPHP1 reported as benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)	rs11675767	0.38033
NM_001128178.3(NPHP1):c.860-47G>A	rs2271244	0.28919
NM_001128178.3(NPHP1):c.1353-47T>C	rs1509419	0.07914
NM_001128178.3(NPHP1):c.771+39C>T	rs73954628	0.03266
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)	rs33958626	0.02731
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)	rs113450177	0.01140
NM_001128178.3(NPHP1):c.1529+19C>T	rs112090979	0.01096
NM_001128178.3(NPHP1):c.772-17G>A	rs146343637	0.00862
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)	rs190983114	0.00366
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)	rs186950965	0.00014
NM_001128178.3(NPHP1):c.859+5T>C	rs374379957	0.00001
NM_000272.3(NPHP1):c.625-3dup	rs200118387

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.