ClinVar Miner

List of variants reported as likely pathogenic for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_001079878.2(CNGA3):c.-37-1G>C rs1553447991
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001079878.2(CNGA3):c.1564G>A (p.Val522Ile) rs116448158
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.757C>G (p.Pro253Ala) rs149802213
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.880_882ATC[2] (p.Ile296del)
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)
NM_005272.4(GNAT2):c.107T>G (p.Leu36Arg) rs1240543072
NM_005272.4(GNAT2):c.139A>G (p.Ser47Gly) rs146606352
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005272.4(GNAT2):c.808_810AAG[1] (p.Lys271del)
NM_005272.4(GNAT2):c.937C>T (p.Arg313Ter) rs748981899
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)
NM_006204.4(PDE6C):c.1847+3_1847+6del rs1554890513
NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro) rs863224908
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu) rs1554888858
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter) rs1554888861
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_006204.4(PDE6C):c.864+1G>A rs1023522305
NM_007348.4(ATF6):c.1784del (p.Leu595fs) rs1558022158
NM_007348.4(ATF6):c.417dup (p.Asn140Ter) rs765383904
NM_007348.4(ATF6):c.511del (p.Ile171fs)
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792
NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.4(CNGB3):c.1179-2A>T rs1057517167
NM_019098.4(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.4(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.4(CNGB3):c.1397T>A (p.Met466Lys) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306
NM_019098.4(CNGB3):c.1480+1G>A rs1057516825
NM_019098.4(CNGB3):c.1481-2A>C rs1554609978
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.4(CNGB3):c.1578+2C>G rs1554609943
NM_019098.4(CNGB3):c.1579-1G>A rs1057516504
NM_019098.4(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.4(CNGB3):c.1663-2137C>T
NM_019098.4(CNGB3):c.1663-5T>G rs964530890
NM_019098.4(CNGB3):c.1700G>A (p.Gly567Glu)
NM_019098.4(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.4(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.4(CNGB3):c.1781+1del rs1554607546
NM_019098.4(CNGB3):c.1823T>A (p.Val608Glu) rs1554604833
NM_019098.4(CNGB3):c.1908del (p.Ile637fs) rs1057516571
NM_019098.4(CNGB3):c.1928+2T>C rs1057517454
NM_019098.4(CNGB3):c.1929-2A>G rs1057517388
NM_019098.4(CNGB3):c.1937del (p.Leu645_Leu646insTer) rs745557293
NM_019098.4(CNGB3):c.2008G>T (p.Glu670Ter) rs1554604775
NM_019098.4(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853
NM_019098.4(CNGB3):c.218_219TC[1] (p.Ser74fs) rs1057517434
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.4(CNGB3):c.445_447delinsT (p.Lys149fs) rs1554614402
NM_019098.4(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.556_559del (p.Arg186fs) rs1057517053
NM_019098.4(CNGB3):c.567del (p.Trp189fs) rs1057517052
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019098.4(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) rs768345097
NM_019098.4(CNGB3):c.782A>G (p.Asp261Gly)
NM_019098.4(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.4(CNGB3):c.852+1G>T
NM_019098.4(CNGB3):c.991-3T>G rs773372519

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