ClinVar Miner

List of variants in gene PDE6B studied for Retinitis pigmentosa 40

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
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.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000283.4(PDE6B):c.559G>A (p.Val187Met) rs138615156 0.00004
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.1954C>T (p.Gln652Ter) rs373037737 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.1591C>T (p.Arg531Ter) rs121918580 0.00002
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met) rs775321796 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.1667A>G (p.Tyr556Cys) rs755577875 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.1811C>T (p.Thr604Ile) rs752738349 0.00001
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) rs1737315492 0.00001
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser) rs773420808 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.739T>A (p.Phe247Ile) rs780521818 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.1070T>A (p.Ile357Asn)
NM_000283.4(PDE6B):c.1107+219G>A
NM_000283.4(PDE6B):c.1107+2dup rs1560122302
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.1401+2T>G rs1736426982
NM_000283.4(PDE6B):c.1488del (p.Thr497fs) rs730880317
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs) rs1553801591
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys) rs1263635426
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His) rs1737229618
NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile) rs747684283
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.1876G>T (p.Glu626Ter) rs758052437
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.2117A>T (p.Lys706Met)
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2193G>A (p.Lys731=)
NM_000283.4(PDE6B):c.221dup (p.Val75fs) rs1734066308
NM_000283.4(PDE6B):c.2353-7_2353-3del rs1737974000
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp) rs771338607
NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg) rs121918583
NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs) rs2109284029
NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)
NM_000283.4(PDE6B):c.510C>G (p.Tyr170Ter) rs2109133174
NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys) rs368094720
NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter) rs1212998897
NM_000283.4(PDE6B):c.853-1G>A rs2109193662
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000283.4(PDE6B):c.946G>A (p.Val316Met)

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