ClinVar Miner

List of variants reported as likely pathogenic for Rod-cone dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000283.3(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
NM_006531.5(IFT88):c.1082dup (p.Asn361fs)
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer)
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
NM_019892.6(INPP5E):c.943_965dup (p.Leu323fs)
NM_019892.6(INPP5E):c.[1787G>C;746C>T]
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
NM_052989.3(IFT122):c.3649del (p.Glu1217fs)

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.