ClinVar Miner

List of variants studied for Cone dystrophy 4

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Total variants: 83
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HGVS dbSNP
NM_006204.4(PDE6C):c.*209T>C rs530054025
NM_006204.4(PDE6C):c.*235A>T rs543722110
NM_006204.4(PDE6C):c.*247A>C rs563701427
NM_006204.4(PDE6C):c.*26A>G rs112520932
NM_006204.4(PDE6C):c.*64A>C
NM_006204.4(PDE6C):c.*87C>T rs540915530
NM_006204.4(PDE6C):c.-21C>T rs374900090
NM_006204.4(PDE6C):c.-7C>A
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) rs777483878
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663
NM_006204.4(PDE6C):c.1072-8C>T rs781649493
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229
NM_006204.4(PDE6C):c.1120-6T>C
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) rs774245507
NM_006204.4(PDE6C):c.1270-7A>G rs616522
NM_006204.4(PDE6C):c.1270-9C>T rs11187564
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser)
NM_006204.4(PDE6C):c.1308T>G (p.Thr436=)
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228
NM_006204.4(PDE6C):c.1482+9T>C rs201702907
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) rs779174659
NM_006204.4(PDE6C):c.1557C>T (p.His519=)
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) rs554790963
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp)
NM_006204.4(PDE6C):c.1630-4T>C
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236
NM_006204.4(PDE6C):c.1935+10C>A rs1409332
NM_006204.4(PDE6C):c.1935+13C>T
NM_006204.4(PDE6C):c.1935+4C>T rs373290960
NM_006204.4(PDE6C):c.1936-9A>G rs182445749
NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro) rs863224908
NM_006204.4(PDE6C):c.2036+2T>G
NM_006204.4(PDE6C):c.2037-13G>C rs765202218
NM_006204.4(PDE6C):c.2037-7T>C rs181296577
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560
NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met)
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131
NM_006204.4(PDE6C):c.2144+15T>C rs201956926
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) rs200939953
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)
NM_006204.4(PDE6C):c.2208+14A>C rs61701022
NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys)
NM_006204.4(PDE6C):c.2304A>G (p.Lys768=)
NM_006204.4(PDE6C):c.2367G>A (p.Lys789=)
NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu)
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn)
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly) rs148661165
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149
NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys)
NM_006204.4(PDE6C):c.306G>A (p.Arg102=)
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) rs201231586
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter)
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser)
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.537G>T (p.Leu179=)
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854
NM_006204.4(PDE6C):c.558G>A (p.Val186=)
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.669C>T (p.Ile223=)
NM_006204.4(PDE6C):c.724-15G>T rs141403797
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715
NM_006204.4(PDE6C):c.792G>A (p.Ala264=)
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537
NM_006204.4(PDE6C):c.864+13C>T rs199559247
NM_006204.4(PDE6C):c.873C>T (p.Tyr291=)
NM_006204.4(PDE6C):c.939+4C>T rs371814026
NM_006204.4(PDE6C):c.939+9A>G rs886047482
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) rs758391651

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