ClinVar Miner

List of variants in gene PDE6A reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) rs138315990 0.00098
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547 0.00092
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
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.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala) rs199887926 0.00026
NM_000440.3(PDE6A):c.282G>A (p.Met94Ile) rs150808864 0.00023
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys) rs201406216 0.00020
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) rs148637474 0.00016
NM_000440.3(PDE6A):c.998C>T (p.Pro333Leu) rs368428076 0.00014
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn) rs374847529 0.00010
NM_000440.3(PDE6A):c.1092G>A (p.Ala364=) rs774836540 0.00009
NM_000440.3(PDE6A):c.2248C>T (p.Arg750Cys) rs577146307 0.00009
NM_000440.3(PDE6A):c.2479A>C (p.Lys827Gln) rs780450680 0.00006
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe) rs201535083 0.00004
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.2525C>T (p.Pro842Leu) rs542180384 0.00002
NM_000440.3(PDE6A):c.1607A>G (p.His536Arg) rs890622058 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.197G>A (p.Arg66Gln) rs753177050 0.00001
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met) rs536549575 0.00001
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile) rs746482403 0.00001
NM_000440.3(PDE6A):c.43T>A (p.Ser15Thr) rs1754417825 0.00001
NM_000440.3(PDE6A):c.1129G>T (p.Glu377Ter)
NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.2042T>A (p.Phe681Tyr)
NM_000440.3(PDE6A):c.2242C>A (p.Leu748Met)
NM_000440.3(PDE6A):c.2245G>A (p.Glu749Lys)
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2541C>A (p.Ser847Arg)
NM_000440.3(PDE6A):c.256T>C (p.Cys86Arg)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.378G>A (p.Val126=)
NM_000440.3(PDE6A):c.627+2T>G rs1581211727
NM_000440.3(PDE6A):c.63_68del (p.Lys21_Tyr23delinsAsn)
NM_000440.3(PDE6A):c.706C>T (p.Arg236Ter)
NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)
NM_000440.3(PDE6A):c.84C>A (p.Tyr28Ter)

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