ClinVar Miner

List of variants in gene CNGA3 reported as uncertain significance for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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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.*60G>A rs546240673
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.1289A>G (p.Lys430Arg) rs190014426
NM_001079878.2(CNGA3):c.1503G>A (p.Met501Ile) rs199655686
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.723C>A (p.Thr241=) rs138921037
NM_001079878.2(CNGA3):c.742G>A (p.Val248Met) rs536335712
NM_001079878.2(CNGA3):c.929T>C (p.Ile310Thr) rs752170364
NM_001079878.2(CNGA3):c.980A>G (p.His327Arg) rs780411290
NM_001298.2(CNGA3):c.-271G>A rs192111633
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.822G>T (p.Arg274Ser)

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