ClinVar Miner

List of variants in gene RIMS1 studied for Cone-Rod Dystrophy, Dominant

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Total variants: 12
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HGVS dbSNP
NM_014989.5(RIMS1):c.*1390dup rs142802827
NM_014989.5(RIMS1):c.*1453dup rs537509888
NM_014989.5(RIMS1):c.*1457dup rs886061718
NM_014989.5(RIMS1):c.*1705C>T rs886061722
NM_014989.5(RIMS1):c.*517dup rs201958591
NM_014989.5(RIMS1):c.*538C>T rs886061713
NM_014989.5(RIMS1):c.-182_-180dup rs555947867
NM_014989.5(RIMS1):c.1382C>T (p.Ala461Val) rs886061706
NM_014989.5(RIMS1):c.4057A>G (p.Thr1353Ala) rs886061709
NM_014989.5(RIMS1):c.4259T>C (p.Val1420Ala) rs373553229
NM_014989.5(RIMS1):c.4618+20del rs113359739
NM_014989.5(RIMS1):c.4618+20dup rs113359739

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