ClinVar Miner

List of variants in gene PDE6B reported as pathogenic for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1860del (p.His620fs) rs769671323 0.00021
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000283.4(PDE6B):c.2116A>T (p.Lys706Ter) rs746552548 0.00005
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter) rs121918580 0.00002
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly) rs371911345 0.00002
NM_000283.4(PDE6B):c.992+1G>A rs898144119 0.00002
NM_000283.4(PDE6B):c.1467+1G>C rs527236089 0.00001
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000283.4(PDE6B):c.1041_1042dup (p.Val348fs) rs1560121685
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000283.4(PDE6B):c.1107+2dup rs1560122302
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1401+2T>G rs1736426982
NM_000283.4(PDE6B):c.1417del (p.Leu473fs) rs1577288305
NM_000283.4(PDE6B):c.1488del (p.Thr497fs) rs730880317
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs) rs1553801591
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His) rs1737229618
NM_000283.4(PDE6B):c.177_248dup (p.Leu60_Leu83dup) rs1734061767
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1920+2T>G
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.1923_1971delinsTCTGGGTA (p.Asn643fs) rs1560134806
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.2021+2T>G rs1577301589
NM_000283.4(PDE6B):c.2115_2116delinsAT (p.Lys706Ter) rs1737503567
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg) rs121918583
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp) rs759382635
NM_000283.4(PDE6B):c.510C>G (p.Tyr170Ter) rs2109133174
NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter) rs1212998897
NM_000283.4(PDE6B):c.772C>A (p.His258Asn) rs121918582
NM_000283.4(PDE6B):c.786C>G (p.Tyr262Ter)
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000283.4(PDE6B):c.853-1G>A rs2109193662
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) rs1412122281
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304

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