ClinVar Miner

List of variants in gene PDE6B reported as likely pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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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.700C>T (p.Arg234Cys) rs374915809 0.00008
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1654C>T (p.Arg552Trp) rs1201231261 0.00002
NM_000283.4(PDE6B):c.1A>G (p.Met1Val) rs781003757 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.992+1G>A rs898144119 0.00002
NM_000283.4(PDE6B):c.1108-2A>G rs1316718953 0.00001
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.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.1682A>G (p.His561Arg) rs1305333312 0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter) rs767438881 0.00001
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) rs1737315492 0.00001
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 0.00001
NM_000283.4(PDE6B):c.2419T>C (p.Trp807Arg) rs121918583 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000283.4(PDE6B):c.293G>A (p.Arg98His) rs776050413 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000283.4(PDE6B):c.1031T>C (p.Leu344Pro)
NM_000283.4(PDE6B):c.1066A>G (p.Asn356Asp) rs1736225856
NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)
NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu) rs1392709495
NM_000283.4(PDE6B):c.1161dup (p.Ile388fs) rs1736334634
NM_000283.4(PDE6B):c.1258-2A>G rs1736402440
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1403C>T (p.Pro468Leu) rs1420482878
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1654del (p.Arg552fs) rs1577296602
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_000283.4(PDE6B):c.1684G>A (p.Gly562Ser)
NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile) rs747684283
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1837del (p.Gln613fs)
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs) rs747970185
NM_000283.4(PDE6B):c.1876G>T (p.Glu626Ter) rs758052437
NM_000283.4(PDE6B):c.1921-20_1921-3del
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.1927_1969delinsGG (p.Asn643fs) rs1737428529
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter) rs1737429976
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.2019dup (p.Lys674fs)
NM_000283.4(PDE6B):c.207dup (p.Ile70fs) rs750147338
NM_000283.4(PDE6B):c.2170A>C (p.Lys724Gln)
NM_000283.4(PDE6B):c.221dup (p.Val75fs) rs1734066308
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000283.4(PDE6B):c.2353-18_2354del rs1174120641
NM_000283.4(PDE6B):c.2396G>C (p.Arg799Pro) rs546425862
NM_000283.4(PDE6B):c.241del (p.Arg81fs)
NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs) rs2109284029
NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)
NM_000283.4(PDE6B):c.315del (p.Glu105fs) rs1734075026
NM_000283.4(PDE6B):c.537_540del (p.Pro179_Ile180insTer) rs1470086286
NM_000283.4(PDE6B):c.774C>G (p.His258Gln) rs1735848896
NM_000283.4(PDE6B):c.861dup (p.Asp288Ter)
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000283.4(PDE6B):c.993-1G>C rs527236090

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