ClinVar Miner

List of variants reported as likely pathogenic for achromatopsia 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP
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.1260delT (p.Ile420Metfs) rs1057516866
NM_019098.4(CNGB3):c.1366delC (p.Arg456Alafs) 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.163dupA (p.Thr55Asnfs) rs1057516782
NM_019098.4(CNGB3):c.1663-5T>G rs964530890
NM_019098.4(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.4(CNGB3):c.1774dup (p.Glu592Glyfs) rs1554607548
NM_019098.4(CNGB3):c.1781+1delG rs1554607546
NM_019098.4(CNGB3):c.1823T>A (p.Val608Glu) rs1554604833
NM_019098.4(CNGB3):c.1908delG (p.Ile637Serfs) rs1057516571
NM_019098.4(CNGB3):c.1928+2T>C rs1057517454
NM_019098.4(CNGB3):c.1929-2A>G rs1057517388
NM_019098.4(CNGB3):c.1937delT (p.Leu646Terfs) 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.220_221delTC (p.Ser74Glnfs) rs1057517434
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.412delA (p.Arg138Glufs) rs1057516791
NM_019098.4(CNGB3):c.445_447delAAGinsT (p.Lys149Phefs) rs1554614402
NM_019098.4(CNGB3):c.446_447insT (p.Lys149Asnfs) rs748993388
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.556_559delAGGC (p.Arg186Cysfs) rs1057517053
NM_019098.4(CNGB3):c.567delG (p.Trp189Cysfs) 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.806T>C (p.Leu269Pro) rs1189928623
NM_019098.4(CNGB3):c.991-3T>G rs773372519

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