ClinVar Miner

List of variants in gene PDE6B reported by Blueprint Genetics

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys) rs74411086 0.00198
NM_000283.4(PDE6B):c.804C>T (p.Leu268=) rs147372374 0.00047
NM_000283.4(PDE6B):c.1860del (p.His620fs) rs769671323 0.00021
NM_000283.4(PDE6B):c.1553A>T (p.Lys518Ile) rs369561957 0.00010
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 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.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000283.4(PDE6B):c.2387T>C (p.Met796Thr) rs745856717 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.694G>A (p.Glu232Lys) rs201593198 0.00002
NM_000283.4(PDE6B):c.992+1G>A rs898144119 0.00002
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.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter) rs767438881 0.00001
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 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.1161dup (p.Ile388fs) rs1736334634
NM_000283.4(PDE6B):c.1226C>G (p.Pro409Arg) rs1736345541
NM_000283.4(PDE6B):c.1429C>A (p.Pro477Thr) rs978566517
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.1810A>T (p.Thr604Ser) rs1737239664
NM_000283.4(PDE6B):c.1833-3C>G rs1241323917
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs) rs747970185
NM_000283.4(PDE6B):c.1860C>A (p.His620Gln) rs371908618
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.2115_2116delinsAT (p.Lys706Ter) rs1737503567
NM_000283.4(PDE6B):c.2152G>T (p.Asp718Tyr) rs150639487
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2353-18_2354del rs1174120641
NM_000283.4(PDE6B):c.2429T>C (p.Leu810Pro) rs1737988951
NM_000283.4(PDE6B):c.315del (p.Glu105fs) rs1734075026
NM_000283.4(PDE6B):c.774C>G (p.His258Gln) rs1735848896
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly) rs1365261261

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