ClinVar Miner

List of variants in gene PDE6A reported by Ambry Genetics

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala) rs199887926 0.00026
NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp) rs149945348 0.00017
NM_000440.3(PDE6A):c.2248C>T (p.Arg750Cys) rs577146307 0.00009
NM_000440.3(PDE6A):c.457G>A (p.Val153Ile) rs556692354 0.00009
NM_000440.3(PDE6A):c.710G>A (p.Arg237His) rs772815917 0.00009
NM_000440.3(PDE6A):c.870T>G (p.Asp290Glu) rs140471904 0.00009
NM_000440.3(PDE6A):c.130G>A (p.Val44Met) rs764525413 0.00007
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe) rs201535083 0.00004
NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe) rs141370975 0.00003
NM_000440.3(PDE6A):c.397G>A (p.Val133Ile) rs768596256 0.00003
NM_000440.3(PDE6A):c.1699G>A (p.Val567Met) rs537906487 0.00002
NM_000440.3(PDE6A):c.1736A>G (p.Lys579Arg) rs368690470 0.00002
NM_000440.3(PDE6A):c.2525C>T (p.Pro842Leu) rs542180384 0.00002
NM_000440.3(PDE6A):c.2534A>T (p.Asn845Ile) rs765192034 0.00002
NM_000440.3(PDE6A):c.549G>T (p.Met183Ile) rs770121117 0.00002
NM_000440.3(PDE6A):c.1275A>T (p.Gln425His) rs778351337 0.00001
NM_000440.3(PDE6A):c.1355A>T (p.Asp452Val) rs763913898 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met) rs536549575 0.00001
NM_000440.3(PDE6A):c.238A>G (p.Asn80Asp) rs373452105 0.00001
NM_000440.3(PDE6A):c.43T>A (p.Ser15Thr) rs1754417825 0.00001
NM_000440.3(PDE6A):c.115G>C (p.Ala39Pro)
NM_000440.3(PDE6A):c.1202C>A (p.Ala401Asp)
NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer) rs1456336365
NM_000440.3(PDE6A):c.1490A>G (p.Asp497Gly)
NM_000440.3(PDE6A):c.1643C>G (p.Ser548Cys)
NM_000440.3(PDE6A):c.1660C>T (p.Arg554Cys)
NM_000440.3(PDE6A):c.1679A>G (p.Asn560Ser)
NM_000440.3(PDE6A):c.1743G>C (p.Lys581Asn)
NM_000440.3(PDE6A):c.1766C>A (p.Ala589Asp)
NM_000440.3(PDE6A):c.1826T>C (p.Leu609Pro)
NM_000440.3(PDE6A):c.1862T>A (p.Leu621His)
NM_000440.3(PDE6A):c.1867G>T (p.Gly623Trp)
NM_000440.3(PDE6A):c.199G>A (p.Asp67Asn) rs139198490
NM_000440.3(PDE6A):c.2036C>G (p.Thr679Arg) rs147017310
NM_000440.3(PDE6A):c.2106G>A (p.Met702Ile)
NM_000440.3(PDE6A):c.2297C>G (p.Ala766Gly) rs752929833
NM_000440.3(PDE6A):c.2354A>T (p.Tyr785Phe)
NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr) rs778365507
NM_000440.3(PDE6A):c.321G>C (p.Glu107Asp)
NM_000440.3(PDE6A):c.348C>A (p.His116Gln)
NM_000440.3(PDE6A):c.385G>T (p.Asp129Tyr)
NM_000440.3(PDE6A):c.430G>A (p.Val144Ile)
NM_000440.3(PDE6A):c.548T>A (p.Met183Lys)
NM_000440.3(PDE6A):c.563T>C (p.Val188Ala)
NM_000440.3(PDE6A):c.770G>A (p.Arg257Gln)
NM_000440.3(PDE6A):c.843C>A (p.Asp281Glu)

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