ClinVar Miner

List of variants reported as benign for Patterned macular dystrophy 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77333
NM_000322.5(PRPH2):c.*543G>A rs432753 0.77168
NM_000322.5(PRPH2):c.*1375C>T rs405043 0.77145
NM_000322.5(PRPH2):c.*1357C>T rs405059 0.77141
NM_000322.5(PRPH2):c.*762C>T rs1758213 0.77129
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59432
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000322.5(PRPH2):c.*145G>A rs835 0.24338
NM_000322.5(PRPH2):c.*898C>A rs3176988 0.22759
NM_000322.5(PRPH2):c.*1001C>A rs45550933 0.22757
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_000322.5(PRPH2):c.*132C>T rs77363417 0.02609
NM_000322.5(PRPH2):c.*276G>C rs76754927 0.02448
NM_000322.5(PRPH2):c.*174C>T rs73426412 0.02418
NM_000322.5(PRPH2):c.*839G>A rs73426405 0.02142

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.