ClinVar Miner

List of variants studied for achromatopsia by Genome-Nilou Lab

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_006204.4(PDE6C):c.1270-7A>G rs616522 0.73216
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_007348.4(ATF6):c.1896A>G (p.Ser632=) rs9482 0.63750
NM_007348.4(ATF6):c.1434-3T>A rs2257107 0.48568
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
NM_001377295.2(GNAT2):c.546G>A (p.Thr182=) rs1799875 0.35862
NM_019098.5(CNGB3):c.1481-145A>C rs13258590 0.33289
NM_007348.4(ATF6):c.199A>G (p.Met67Val) rs1058405 0.21366
NM_001377295.2(GNAT2):c.-32A>G rs2304355 0.12857
NM_007348.4(ATF6):c.105C>T (p.Leu35=) rs2070151 0.11890
NM_007348.4(ATF6):c.309G>A (p.Ser103=) rs2271012 0.11573
NM_007348.4(ATF6):c.270T>C (p.Pro90=) rs2271013 0.09194
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1179-38T>C rs3735969 0.05147
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile) rs3738766 0.02487
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) rs61754627 0.00009
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His) rs368906691 0.00003
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr) rs753014058 0.00001
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) rs200316722 0.00001
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) rs140788789 0.00001
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) rs779967692
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) rs758914061
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964

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