ClinVar Miner

List of variants in gene CNGA3 studied for achromatopsia

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 84
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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.-37-1G>C rs1553447991
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.1163T>C (p.Met388Thr) rs1553450734
NM_001079878.2(CNGA3):c.1174C>T (p.Arg392Trp) rs137852608
NM_001079878.2(CNGA3):c.1225C>T (p.Arg409Cys) rs141386891
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.1256_1258delinsAG (p.Val419fs) rs1558820471
NM_001079878.2(CNGA3):c.1266G>A (p.Trp422Ter) rs1553450764
NM_001079878.2(CNGA3):c.1289A>G (p.Lys430Arg) rs190014426
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001079878.2(CNGA3):c.1503G>A (p.Met501Ile) rs199655686
NM_001079878.2(CNGA3):c.1531G>A (p.Val511Met) rs104893619
NM_001079878.2(CNGA3):c.1564G>A (p.Val522Ile) rs116448158
NM_001079878.2(CNGA3):c.1572C>T (p.Ser524=) rs78583671
NM_001079878.2(CNGA3):c.1587C>A (p.Phe529Leu) rs104893617
NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg) rs104893615
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.1723G>A (p.Glu575Lys) rs774676415
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.434C>T (p.Pro145Leu) rs104893612
NM_001079878.2(CNGA3):c.499C>G (p.Leu167Val) rs779715055
NM_001079878.2(CNGA3):c.512+6C>T rs199558955
NM_001079878.2(CNGA3):c.613C>T (p.Arg205Trp) rs138958917
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.742G>A (p.Val248Met) rs536335712
NM_001079878.2(CNGA3):c.757C>G (p.Pro253Ala) rs149802213
NM_001079878.2(CNGA3):c.773A>G (p.Asn258Ser) rs199474697
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) rs104893620
NM_001079878.2(CNGA3):c.793C>T (p.Arg265Trp) rs104893613
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614
NM_001079878.2(CNGA3):c.815G>A (p.Arg272His) rs199837807
NM_001079878.2(CNGA3):c.818C>G (p.Thr273Arg) rs104893616
NM_001079878.2(CNGA3):c.880_882ATC[2] (p.Ile296del)
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_001079878.2(CNGA3):c.929T>C (p.Ile310Thr) rs752170364
NM_001079878.2(CNGA3):c.931G>T (p.Gly311Cys) rs1558820134
NM_001079878.2(CNGA3):c.980A>G (p.His327Arg) rs780411290
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_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser)
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)

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