List of variants in gene NPHP4 reported as likely pathogenic by Invitae

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: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.2611+1G>A	rs374141736	0.00003
NM_015102.5(NPHP4):c.518-2A>G	rs761142233	0.00002
NM_015102.5(NPHP4):c.992+2T>C	rs746243637	0.00002
NC_000001.10:g.(?_5964816)_(6017448_?)del
NM_015102.5(NPHP4):c.135_135+14del	rs1557895715
NM_015102.5(NPHP4):c.135_135+8del	rs2102455183
NM_015102.5(NPHP4):c.1503+1G>T
NM_015102.5(NPHP4):c.2611+1G>C	rs374141736
NM_015102.5(NPHP4):c.2611+2_2611+3del	rs2100733763
NM_015102.5(NPHP4):c.279+1G>A
NM_015102.5(NPHP4):c.280-1G>C	rs1652115764
NM_015102.5(NPHP4):c.2817+1G>A
NM_015102.5(NPHP4):c.3044+1G>T
NM_015102.5(NPHP4):c.3231+1G>A	rs1642345798
NM_015102.5(NPHP4):c.3473-1G>T	rs564232197
NM_015102.5(NPHP4):c.3644+1G>T	rs756111113
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
NM_015102.5(NPHP4):c.452+1G>A
NM_015102.5(NPHP4):c.452+1G>T	rs1195128294
NM_015102.5(NPHP4):c.674-2A>G
NM_015102.5(NPHP4):c.992+1G>T

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.