List of variants reported as likely benign for Nephronophthisis 15

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP
NM_014956.5(CEP164):c.1320C>T (p.Ala440=)	rs145815710
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)	rs112209873
NM_014956.5(CEP164):c.150G>A (p.Ala50=)	rs367761983
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val)	rs144557388
NM_014956.5(CEP164):c.1692G>A (p.Ala564=)	rs143512199
NM_014956.5(CEP164):c.194+10C>T	rs1468150420
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln)	rs142184414
NM_014956.5(CEP164):c.2427G>A (p.Lys809=)	rs201002987
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu)	rs201901144
NM_014956.5(CEP164):c.2744G>A (p.Arg915His)	rs147802563
NM_014956.5(CEP164):c.2772C>G (p.Leu924=)	rs117473319
NM_014956.5(CEP164):c.2844+8A>G	rs142545580
NM_014956.5(CEP164):c.2845-6T>G	rs201515694
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys)	rs115387935
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)	rs138868323
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)	rs61740738
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His)	rs144910893
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln)	rs61745877
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=)	rs149567170
NM_014956.5(CEP164):c.3786C>T (p.His1262=)	rs373372717
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln)	rs150963269
NM_014956.5(CEP164):c.380C>A (p.Pro127His)	rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)	rs143659874
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His)	rs74653460
NM_014956.5(CEP164):c.696C>T (p.His232=)	rs201189268

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.