ClinVar Miner

List of variants in gene RIMS1 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.2670T>C (p.His890=) rs34821160 0.00550
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr) rs200422266 0.00320
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) rs199629596 0.00050
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=) rs369147538 0.00046
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=) rs186078277 0.00029
NM_014989.7(RIMS1):c.3850+7G>A rs753948585 0.00012
NM_014989.7(RIMS1):c.2764C>A (p.Pro922Thr) rs549248313 0.00009
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) rs367601102 0.00007

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