ClinVar Miner

List of variants reported as likely benign for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_001079878.2(CNGA3):c.*574C>T rs13429817
NM_001079878.2(CNGA3):c.*838T>C rs13395005
NM_001079878.2(CNGA3):c.1572C>T (p.Ser524=) rs78583671
NM_001079878.2(CNGA3):c.72T>C (p.Asp24=) rs6727412
NM_001298.2(CNGA3):c.*1351T>G rs28376087
NM_001298.2(CNGA3):c.-286C>T rs13408372
NM_005272.4(GNAT2):c.-32A>G rs2304355
NM_005272.4(GNAT2):c.147C>T (p.Ile49=) rs146945932
NM_005272.4(GNAT2):c.319C>A (p.Leu107Ile) rs3738766
NM_006204.4(PDE6C):c.1270-9C>T rs11187564
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)
NM_019098.4(CNGB3):c.*1303G>A rs17683284
NM_019098.4(CNGB3):c.*1638G>A rs28471019
NM_019098.4(CNGB3):c.*389A>C rs16915861
NM_019098.4(CNGB3):c.*735A>G rs73269601
NM_019098.4(CNGB3):c.*778T>C rs16915859
NM_019098.4(CNGB3):c.*909_*910del rs3217489
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) rs34839859
NM_019098.4(CNGB3):c.1781+10A>T rs7000747
NM_019098.4(CNGB3):c.211+13T>G rs66881636
NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) rs3735970
NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972
NM_019098.4(CNGB3):c.494-11T>C rs543970676
NM_019098.4(CNGB3):c.494-21dup rs36008065
NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) rs114305748
NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) rs16916632
NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) rs13265557

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