ClinVar Miner

List of variants studied for cone dystrophy 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.1270-7A>G rs616522 0.73216
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550 0.36884
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228 0.23737
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_006204.4(PDE6C):c.1270-9C>T rs11187564 0.05345
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131 0.02167
NM_006204.4(PDE6C):c.2208+14A>C rs61701022 0.00810
NM_006204.4(PDE6C):c.*26A>G rs112520932 0.00703
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544 0.00670
NM_006204.4(PDE6C):c.724-15G>T rs141403797 0.00596
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly) rs148661165 0.00218
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229 0.00217
NM_006204.4(PDE6C):c.864+13C>T rs199559247 0.00216
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928 0.00210
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser) rs139456217 0.00121
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926 0.00104
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser) rs145591492 0.00081
NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met) rs41290222 0.00038
NM_006204.4(PDE6C):c.1935+13C>T rs199704992 0.00036
NM_006204.4(PDE6C):c.792G>A (p.Ala264=) rs375235184 0.00034
NM_006204.4(PDE6C):c.*247A>C rs563701427 0.00031
NM_006204.4(PDE6C):c.*235A>T rs543722110 0.00021
NM_006204.4(PDE6C):c.2144+15T>C rs201956926 0.00019
NM_006204.4(PDE6C):c.939+4C>T rs371814026 0.00019
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451 0.00015
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079 0.00010
NM_006204.4(PDE6C):c.1935+4C>T rs373290960 0.00008
NM_006204.4(PDE6C):c.*209T>C rs530054025 0.00006
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) rs774245507 0.00006
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) rs554790963 0.00006
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345 0.00006
NM_006204.4(PDE6C):c.537G>T (p.Leu179=) rs752478645 0.00006
NM_006204.4(PDE6C):c.873C>T (p.Tyr291=) rs138970846 0.00006
NM_006204.4(PDE6C):c.-21C>T rs374900090 0.00004
NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys) rs757099539 0.00004
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663 0.00003
NM_006204.4(PDE6C):c.1120-6T>C rs202031903 0.00003
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) rs779174659 0.00003
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) rs200939953 0.00003
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) rs758391651 0.00003
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171 0.00002
NM_006204.4(PDE6C):c.558G>A (p.Val186=) rs200979646 0.00002
NM_006204.4(PDE6C):c.*87C>T rs540915530 0.00001
NM_006204.4(PDE6C):c.1072-8C>T rs781649493 0.00001
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser) rs762249684 0.00001
NM_006204.4(PDE6C):c.1482+9T>C rs201702907 0.00001
NM_006204.4(PDE6C):c.1557C>T (p.His519=) rs762809900 0.00001
NM_006204.4(PDE6C):c.2037-13G>C rs765202218 0.00001
NM_006204.4(PDE6C):c.2304A>G (p.Lys768=) rs768365686 0.00001
NM_006204.4(PDE6C):c.306G>A (p.Arg102=) rs545034158 0.00001
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) rs201231586 0.00001
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854 0.00001
NM_006204.4(PDE6C):c.*64A>C rs1781280550
NM_006204.4(PDE6C):c.-7C>A rs2058397201
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) rs777483878
NM_006204.4(PDE6C):c.1308T>G (p.Thr436=) rs2058524276
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp) rs2058552494
NM_006204.4(PDE6C):c.1630-4T>C rs368331638
NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys) rs2058668455
NM_006204.4(PDE6C):c.2367G>A (p.Lys789=) rs2058671471
NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu) rs768171384
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn) rs79487435
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
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.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.669C>T (p.Ile223=) rs2058442754
NM_006204.4(PDE6C):c.939+9A>G rs886047482

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