ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.*1390dup rs142802827 0.01135
NM_001319074.4(RAX2):c.-331C>T rs150444854 0.00246
NM_031220.4(PITPNM3):c.2307-13del rs553739885 0.00205
NM_031220.4(PITPNM3):c.62G>A (p.Arg21Gln) rs200809389 0.00004
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000554.6(CRX):c.*1654dup rs138321430
NM_001319074.4(RAX2):c.*1082_*1092del rs143816706
NM_006017.3(PROM1):c.*84del rs112952685
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_014989.7(RIMS1):c.-182_-180dup rs555947867
NM_031220.4(PITPNM3):c.*2037del rs552929922
NM_031220.4(PITPNM3):c.*2381AG[5] rs553650590

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