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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014989.7(RIMS1):c.*1390dup	rs142802827	0.01135
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala)	rs373553229	0.00004
NM_014989.7(RIMS1):c.*1705C>T	rs886061722	0.00002
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)	rs886061709	0.00002
NM_014989.7(RIMS1):c.*538C>T	rs886061713	0.00001
NM_014989.7(RIMS1):c.*1453dup	rs537509888
NM_014989.7(RIMS1):c.*1457dup	rs886061718
NM_014989.7(RIMS1):c.*517dup	rs201958591
NM_014989.7(RIMS1):c.-182_-180dup	rs555947867
NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val)	rs886061706
NM_014989.7(RIMS1):c.4618+20del	rs113359739
NM_014989.7(RIMS1):c.4618+20dup	rs113359739

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