ClinVar Miner

List of variants reported as likely benign for Cone dystrophy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002098.6(GUCA1B):c.*1318G>A rs1997980 0.19007
NM_002098.6(GUCA1B):c.*457A>G rs9471797 0.08647
NM_002098.6(GUCA1B):c.*220A>G rs3749920 0.07278
NM_002098.6(GUCA1B):c.*503G>A rs13211352 0.05737
NM_002098.6(GUCA1B):c.*480G>A rs113734032 0.02758
NM_001384910.1(GUCA1A):c.*479C>T rs6899575 0.02610
NM_002098.6(GUCA1B):c.*429G>A rs114573886 0.02273
NM_002098.6(GUCA1B):c.*488C>T rs7764586 0.02085
NM_002098.6(GUCA1B):c.*295G>A rs73733110 0.01608
NM_002098.6(GUCA1B):c.*433A>G rs140024841 0.01581
NM_002098.6(GUCA1B):c.*477C>T rs143063040 0.01574
NM_002098.6(GUCA1B):c.*1088G>C rs76451756 0.01569
NM_002098.6(GUCA1B):c.*1126A>G rs115180990 0.01569
NM_002098.6(GUCA1B):c.*1203T>C rs75437254 0.01565
NM_002098.6(GUCA1B):c.*928A>G rs114824449 0.01564
NM_002098.6(GUCA1B):c.*666G>T rs140229339 0.01415
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_002098.6(GUCA1B):c.*618G>A rs150308756 0.01146
NM_001384910.1(GUCA1A):c.*76C>A rs76792280 0.01120
NM_002098.6(GUCA1B):c.*581G>A rs138314395 0.00660
NM_001384910.1(GUCA1A):c.*345G>A rs115636833 0.00658
NM_001384910.1(GUCA1A):c.*331A>G rs45553838 0.00510
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001

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