List of variants reported as benign for Retinitis pigmentosa 76

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)	rs6659553	0.94881
NM_017739.4(POMGNT1):c.1027-44A>G	rs7527668	0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	rs2292487	0.34915
NM_017739.4(POMGNT1):c.951-52A>G	rs7527935	0.34868
NM_017739.4(POMGNT1):c.1212-66T>C	rs2292484	0.34786
NM_017739.4(POMGNT1):c.1212-81C>T	rs2292485	0.34766
NM_017739.4(POMGNT1):c.1895+30A>G	rs113174528	0.05532
NM_017739.4(POMGNT1):c.235+33T>G	rs41309197	0.04222
NM_017739.4(POMGNT1):c.1111-23C>T	rs2292486	0.02728

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.