ClinVar Miner

List of variants reported as benign for Cone-Rod Dystrophy, Dominant by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_001319074.4(RAX2):c.*721_*724del rs138512126
NM_014989.7(RIMS1):c.*1453dup rs537509888
NM_014989.7(RIMS1):c.4618+20del rs113359739
NM_031220.4(PITPNM3):c.*2336_*2337del rs144836655
NM_031220.4(PITPNM3):c.*3555del rs61555153
NM_031220.4(PITPNM3):c.*582dup rs57661669

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