ClinVar Miner

List of variants studied for achromatopsia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP
NM_001079878.2(CNGA3):c.*1050A>G rs886056493
NM_001079878.2(CNGA3):c.*1209del rs886056494
NM_001079878.2(CNGA3):c.*1240C>T rs886056495
NM_001079878.2(CNGA3):c.*166G>A rs746901363
NM_001079878.2(CNGA3):c.*178C>T rs113687827
NM_001079878.2(CNGA3):c.*283G>A rs140093444
NM_001079878.2(CNGA3):c.*418T>C rs886056491
NM_001079878.2(CNGA3):c.*469A>G rs536138883
NM_001079878.2(CNGA3):c.*516T>C rs886056492
NM_001079878.2(CNGA3):c.*574C>T rs13429817
NM_001079878.2(CNGA3):c.*60G>A rs546240673
NM_001079878.2(CNGA3):c.*838T>C rs13395005
NM_001079878.2(CNGA3):c.*904C>T rs867630128
NM_001079878.2(CNGA3):c.-43G>A rs886056488
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.110C>T (p.Ser37Leu) rs141086649
NM_001079878.2(CNGA3):c.1174C>T (p.Arg392Trp) rs137852608
NM_001079878.2(CNGA3):c.1289A>G (p.Lys430Arg) rs190014426
NM_001079878.2(CNGA3):c.1572C>T (p.Ser524=) rs78583671
NM_001079878.2(CNGA3):c.1625C>T (p.Ser542Leu) rs370911601
NM_001079878.2(CNGA3):c.1692C>T (p.Asp564=) rs77311157
NM_001079878.2(CNGA3):c.1791G>T (p.Glu597Asp) rs886056489
NM_001079878.2(CNGA3):c.1812C>T (p.Asp604=) rs886056490
NM_001079878.2(CNGA3):c.1895A>C (p.Glu632Ala) rs139368657
NM_001079878.2(CNGA3):c.1914G>A (p.Met638Ile) rs147293818
NM_001079878.2(CNGA3):c.1996G>A (p.Gly666Arg) rs754086920
NM_001079878.2(CNGA3):c.215+11A>G rs199755395
NM_001079878.2(CNGA3):c.225C>T (p.Arg75=) rs200404774
NM_001079878.2(CNGA3):c.238C>T (p.Leu80=) rs575326068
NM_001079878.2(CNGA3):c.395+3030G>A rs114951127
NM_001079878.2(CNGA3):c.499C>G (p.Leu167Val) rs779715055
NM_001079878.2(CNGA3):c.512+6C>T rs199558955
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.67C>T (p.Arg23Ter) rs777509481
NM_001079878.2(CNGA3):c.723C>A (p.Thr241=) rs138921037
NM_001079878.2(CNGA3):c.72T>C (p.Asp24=) rs6727412
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614
NM_001079878.2(CNGA3):c.929T>C (p.Ile310Thr) rs752170364
NM_001298.2(CNGA3):c.*1351T>G rs28376087
NM_001298.2(CNGA3):c.-271G>A rs192111633
NM_001298.2(CNGA3):c.-286C>T rs13408372
NM_001298.2(CNGA3):c.-287C>T rs775933048
NM_001298.2(CNGA3):c.-326G>A rs886056487
NM_001298.2(CNGA3):c.-383A>G rs143449407
NM_001298.2(CNGA3):c.-388C>G rs748374868
NM_001298.2(CNGA3):c.-406C>T rs529394802
NM_005272.4(GNAT2):c.-131G>A rs532113128
NM_005272.4(GNAT2):c.-32A>G rs2304355
NM_005272.4(GNAT2):c.-88C>G rs886045029
NM_005272.4(GNAT2):c.147C>T (p.Ile49=) rs146945932
NM_005272.4(GNAT2):c.14C>T (p.Ala5Val) rs199503029
NM_005272.4(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_005272.4(GNAT2):c.319C>A (p.Leu107Ile) rs3738766
NM_005272.4(GNAT2):c.369C>T (p.Leu123=) rs12046787
NM_005272.4(GNAT2):c.370G>A (p.Val124Met) rs41280330
NM_005272.4(GNAT2):c.427G>A (p.Ala143Thr) rs149421007
NM_005272.4(GNAT2):c.546G>A (p.Thr182=) rs1799875
NM_005272.4(GNAT2):c.609G>T (p.Gly203=) rs551776784
NM_005272.4(GNAT2):c.672T>C (p.Cys224=) rs201230566
NM_005272.4(GNAT2):c.928C>T (p.Leu310Phe) rs200883344
NM_005272.4(GNAT2):c.933T>C (p.Asn311=) rs34723289
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.*87C>T rs540915530
NM_006204.4(PDE6C):c.-21C>T rs374900090
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.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.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.1580G>A (p.Arg527Gln) rs554790963
NM_006204.4(PDE6C):c.1935+10C>A rs1409332
NM_006204.4(PDE6C):c.1935+4C>T rs373290960
NM_006204.4(PDE6C):c.1936-9A>G rs182445749
NM_006204.4(PDE6C):c.2037-13G>C rs765202218
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544
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.2208+13_2208+17del rs886047483
NM_006204.4(PDE6C):c.2208+14A>C rs61701022
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
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.316G>A (p.Gly106Ser) rs201231586
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.724-15G>T rs141403797
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865
NM_006204.4(PDE6C):c.864+13C>T rs199559247
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
NM_019098.4(CNGB3):c.*1093C>T rs886063156
NM_019098.4(CNGB3):c.*1183T>C rs78927155
NM_019098.4(CNGB3):c.*125G>C rs186370374
NM_019098.4(CNGB3):c.*1303G>A rs17683284
NM_019098.4(CNGB3):c.*1368T>C rs886063155
NM_019098.4(CNGB3):c.*1371G>T rs372688369
NM_019098.4(CNGB3):c.*1459C>T rs192543896
NM_019098.4(CNGB3):c.*1470G>C rs568808064
NM_019098.4(CNGB3):c.*1638G>A rs28471019
NM_019098.4(CNGB3):c.*1639C>A rs990192
NM_019098.4(CNGB3):c.*1701C>T rs886063154
NM_019098.4(CNGB3):c.*1881T>C rs990193
NM_019098.4(CNGB3):c.*206G>A rs886063159
NM_019098.4(CNGB3):c.*293T>C rs141717983
NM_019098.4(CNGB3):c.*379T>G rs188787381
NM_019098.4(CNGB3):c.*389A>C rs16915861
NM_019098.4(CNGB3):c.*51C>T rs189210452
NM_019098.4(CNGB3):c.*621G>A rs116835980
NM_019098.4(CNGB3):c.*731C>T rs886063158
NM_019098.4(CNGB3):c.*735A>G rs73269601
NM_019098.4(CNGB3):c.*778T>C rs16915859
NM_019098.4(CNGB3):c.*798A>C rs886063157
NM_019098.4(CNGB3):c.*84C>T rs372938106
NM_019098.4(CNGB3):c.*909_*910del rs3217489
NM_019098.4(CNGB3):c.-32T>C rs376141938
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.4(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160
NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) rs34839859
NM_019098.4(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269
NM_019098.4(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676
NM_019098.4(CNGB3):c.1534A>G (p.Ile512Val) rs146062161
NM_019098.4(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.4(CNGB3):c.1781+10A>T rs7000747
NM_019098.4(CNGB3):c.1815T>G (p.Thr605=) rs143131185
NM_019098.4(CNGB3):c.211+13T>G rs66881636
NM_019098.4(CNGB3):c.212-3T>C rs79126074
NM_019098.4(CNGB3):c.212-6del rs745969238
NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) rs3735970
NM_019098.4(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971
NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972
NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) rs78239264
NM_019098.4(CNGB3):c.241G>A (p.Asp81Asn) rs148834016
NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289
NM_019098.4(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.4(CNGB3):c.339-17dup rs200792506
NM_019098.4(CNGB3):c.43G>C (p.Gly15Arg) rs150260103
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.494-11T>C rs543970676
NM_019098.4(CNGB3):c.494-21dup rs36008065
NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) rs114305748
NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) rs16916632
NM_019098.4(CNGB3):c.624C>T (p.Asn208=) rs144347980
NM_019098.4(CNGB3):c.670C>T (p.Leu224Phe) rs373286939
NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) rs6471482
NM_019098.4(CNGB3):c.738C>T (p.Thr246=) rs781628736
NM_019098.4(CNGB3):c.739G>A (p.Ala247Thr) rs150490913
NM_019098.4(CNGB3):c.773T>C (p.Ile258Thr) rs886063162
NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) rs35807406
NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) rs4961206
NM_019098.4(CNGB3):c.913G>A (p.Ala305Thr) rs144637286
NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) rs13265557

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