ClinVar Miner

List of variants reported as benign for achromatopsia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_005272.4(GNAT2):c.546G>A (p.Thr182=) rs1799875
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550
NM_006204.4(PDE6C):c.1270-7A>G rs616522
NM_006204.4(PDE6C):c.1935+10C>A rs1409332
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865
NM_019098.4(CNGB3):c.*1639C>A rs990192
NM_019098.4(CNGB3):c.*1881T>C rs990193
NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) rs6471482
NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) rs4961206

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