ClinVar Miner

List of variants in gene PDE6A reported as pathogenic by Invitae

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) rs121909835 0.00006
NM_000440.3(PDE6A):c.2275-1G>A rs1428612396 0.00006
NM_000440.3(PDE6A):c.305G>A (p.Arg102His) rs750539462 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000440.3(PDE6A):c.998+1G>A rs748946491 0.00003
NM_000440.3(PDE6A):c.1407+1G>C rs781616522 0.00001
NM_000440.3(PDE6A):c.1620+1G>A rs781377291 0.00001
NM_000440.3(PDE6A):c.1620+2T>A rs1383907349 0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) rs759589388 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) rs759563967 0.00001
NM_000440.3(PDE6A):c.2426G>A (p.Trp809Ter) rs979416907 0.00001
NC_000005.9:g.(?_149245713)_(149263119_?)del
NC_000005.9:g.(?_149260346)_(149263094_?)del
NC_000005.9:g.(?_149262972)_(149276359_?)del
NC_000005.9:g.(?_149294486)_(149294590_?)del
NC_000005.9:g.(?_149294506)_(149294570_?)del
NM_000440.3(PDE6A):c.1010del (p.Pro337fs)
NM_000440.3(PDE6A):c.1065+1G>T
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter) rs2113595869
NM_000440.3(PDE6A):c.1263+1G>A rs369896113
NM_000440.3(PDE6A):c.1263+1G>T rs369896113
NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer) rs1456336365
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter) rs1390479623
NM_000440.3(PDE6A):c.1311T>A (p.Tyr437Ter)
NM_000440.3(PDE6A):c.1359dup (p.Val454fs)
NM_000440.3(PDE6A):c.1363A>T (p.Lys455Ter)
NM_000440.3(PDE6A):c.1538del (p.Leu513fs)
NM_000440.3(PDE6A):c.1561del (p.Cys521fs) rs2113586514
NM_000440.3(PDE6A):c.1600A>T (p.Lys534Ter)
NM_000440.3(PDE6A):c.1651_1652insCATG (p.Lys551delinsThrTer) rs1295637847
NM_000440.3(PDE6A):c.1664del (p.Lys555fs) rs2113582639
NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro) rs759537984
NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter) rs1752223896
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.192_202del (p.Leu65fs)
NM_000440.3(PDE6A):c.1937del (p.Ile646fs)
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.1966G>T (p.Glu656Ter) rs199871385
NM_000440.3(PDE6A):c.1989dup (p.Ile664fs) rs2113553528
NM_000440.3(PDE6A):c.2036del (p.Thr679fs) rs2113549546
NM_000440.3(PDE6A):c.2118del (p.Arg707fs) rs1761006182
NM_000440.3(PDE6A):c.2206dup (p.Leu736fs)
NM_000440.3(PDE6A):c.221_224del (p.Thr74fs)
NM_000440.3(PDE6A):c.2263C>T (p.Gln755Ter) rs2113507459
NM_000440.3(PDE6A):c.2306del (p.Leu769fs) rs2113503448
NM_000440.3(PDE6A):c.2316_2317delinsAT (p.Gln773Ter) rs2113503389
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2346dup (p.Phe783fs) rs2113503234
NM_000440.3(PDE6A):c.2358+1G>A
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.286del (p.Leu96fs) rs1270005492
NM_000440.3(PDE6A):c.291del (p.Phe97fs) rs2113673375
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys) rs141252097
NM_000440.3(PDE6A):c.676del (p.His226fs)
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter) rs1754021035
NM_000440.3(PDE6A):c.823_824del (p.Tyr275fs)

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