ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 40

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00011
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1243G>A (p.Glu415Lys) rs750599200 0.00001
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000283.4(PDE6B):c.1682A>G (p.His561Arg) rs1305333312 0.00001
NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)
NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu) rs1392709495
NM_000283.4(PDE6B):c.1258-2A>G rs1736402440
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile) rs747684283
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1876G>T (p.Glu626Ter) rs758052437
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.221dup (p.Val75fs) rs1734066308
NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs) rs2109284029
NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304

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.