List of variants reported as pathogenic for Retinitis pigmentosa by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00029
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)	rs777989874	0.00016
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_001042432.2(CLN3):c.379del (p.Arg127fs)	rs386833717
NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter)	rs1566945534
NM_015072.5(TTLL5):c.1487+1G>A	rs1566585766
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)	rs281865188
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	rs386834261
NM_182894.3(VSX2):c.609G>A (p.Trp203Ter)	rs1566888340

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.