List of variants reported as uncertain significance for cone dystrophy 4

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 65

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HGVS	dbSNP	gnomAD frequency
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)	rs45522236	0.00677
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.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.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.1413+3A>T
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp)	rs2058552494
NM_006204.4(PDE6C):c.1630-4T>C	rs368331638
NM_006204.4(PDE6C):c.1711G>C (p.Gly571Arg)
NM_006204.4(PDE6C):c.2018A>G (p.Asp673Gly)
NM_006204.4(PDE6C):c.2242C>A (p.Gln748Lys)
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.2424C>G (p.Asn808Lys)	rs912743767
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp)	rs779769374
NM_006204.4(PDE6C):c.252G>T (p.Leu84=)	rs1131978
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp)	rs375795507
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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