ClinVar Miner

List of variants in gene RIMS1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) rs2463730 0.97497
NM_014989.7(RIMS1):c.666A>G (p.Leu222=) rs2249021 0.68629
NM_014989.7(RIMS1):c.2928-80C>T rs6923891 0.64993
NM_014989.7(RIMS1):c.1857+61C>T rs2807519 0.64829
NM_014989.7(RIMS1):c.812+93G>A rs17725666 0.28373
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) rs114505309 0.27986
NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=) rs2815738 0.20033
NM_014989.7(RIMS1):c.460-37C>T rs41265489 0.06803
NM_014989.7(RIMS1):c.3482+79A>T rs6925880 0.05401
NM_014989.7(RIMS1):c.3555-91G>A rs76570730 0.03149
NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu) rs41265501 0.02304
NM_014989.7(RIMS1):c.3053+74A>T rs9442761 0.02076
NM_014989.7(RIMS1):c.1679-20565G>A rs9446600 0.02013
NM_014989.7(RIMS1):c.*75G>A rs11751101 0.01731
NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu) rs116476753 0.01524
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) rs201017334 0.00039
NM_014989.7(RIMS1):c.3182G>A (p.Trp1061Ter) rs749393051 0.00006
NM_014989.7(RIMS1):c.1249G>A (p.Ala417Thr) rs1261413990
NM_014989.7(RIMS1):c.3308+84_3308+86del rs200346289
NM_014989.7(RIMS1):c.4618+20del rs113359739
NM_014989.7(RIMS1):c.471+97C>A rs144273575
NM_014989.7(RIMS1):c.4860+80_4860+81del rs67994138

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