ClinVar Miner

List of variants in gene RIMS1 reported as uncertain significance for Retinal dystrophy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.1744T>G (p.Ser582Ala) rs377567871 0.00010
NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu) rs371189625 0.00007
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) rs121918302 0.00006
NM_014989.7(RIMS1):c.1784G>A (p.Arg595Gln) rs368099198 0.00002
NM_014989.7(RIMS1):c.2370A>G (p.Arg790=) rs531497232 0.00001
NM_014989.7(RIMS1):c.4111C>T (p.Arg1371Cys) rs995769455 0.00001
NM_014989.7(RIMS1):c.164A>T (p.Lys55Met) rs777506314
NM_014989.7(RIMS1):c.1679-20601G>A rs2054153366
NM_014989.7(RIMS1):c.1957+5dup rs755711003
NM_014989.7(RIMS1):c.2077A>G (p.Ile693Val) rs765521036
NM_014989.7(RIMS1):c.2553A>G (p.Ile851Met) rs2073159102
NM_014989.7(RIMS1):c.2696A>G (p.Gln899Arg) rs2073215261

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