ClinVar Miner

List of variants in gene PDE6A reported as benign by Invitae

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.331A>C (p.Arg111=) rs2277925 0.21963
NM_000440.3(PDE6A):c.465C>T (p.Asn155=) rs2277926 0.18879
NM_000440.3(PDE6A):c.2136-17G>T rs6864267 0.09116
NM_000440.3(PDE6A):c.2337T>C (p.Phe779=) rs17110644 0.05660
NM_000440.3(PDE6A):c.2424G>A (p.Glu808=) rs10067462 0.04249
NM_000440.3(PDE6A):c.647A>G (p.Asn216Ser) rs10057110 0.04068
NM_000440.3(PDE6A):c.1791C>T (p.Phe597=) rs61733360 0.03204
NM_000440.3(PDE6A):c.2400C>T (p.Asp800=) rs4705390 0.03160
NM_000440.3(PDE6A):c.998+11C>T rs75319698 0.01758
NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) rs61732059 0.01720
NM_000440.3(PDE6A):c.1017T>C (p.His339=) rs61733364 0.01655
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01647
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349 0.01488
NM_000440.3(PDE6A):c.433G>A (p.Ala145Thr) rs35431421 0.00972
NM_000440.3(PDE6A):c.718-18G>A rs113309832 0.00744
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000440.3(PDE6A):c.933+4C>T rs12109444 0.00393
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000440.3(PDE6A):c.102C>T (p.Ser34=) rs140009042 0.00188
NM_000440.3(PDE6A):c.918G>A (p.Arg306=) rs139553131 0.00124
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=) rs147000954 0.00099
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547 0.00092
NM_000440.3(PDE6A):c.765C>T (p.Ile255=) rs141300510 0.00080
NM_000440.3(PDE6A):c.940A>C (p.Asn314His) rs150755165 0.00071
NM_000440.3(PDE6A):c.1408-11G>A rs201527437 0.00059
NM_000440.3(PDE6A):c.177A>G (p.Glu59=) rs146550067 0.00050
NM_000440.3(PDE6A):c.456C>T (p.Asn152=) rs149256612 0.00038
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=) rs139697733 0.00032
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr) rs200696413 0.00019
NM_000440.3(PDE6A):c.879G>A (p.Pro293=) rs137853899 0.00016
NM_000440.3(PDE6A):c.481C>G (p.His161Asp) rs758150381 0.00002
NM_000440.3(PDE6A):c.2301T>C (p.Asp767=) rs201085169 0.00001
NM_000440.3(PDE6A):c.1264-17CTTT[4] rs538441314
NM_000440.3(PDE6A):c.1407+18C>G rs144188232
NM_000440.3(PDE6A):c.2028-5del rs2113549585
NM_000440.3(PDE6A):c.2506+12G>A rs201462717
NM_000440.3(PDE6A):c.718-9dup rs575263004

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