ClinVar Miner

List of variants in gene RIMS1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.2895G>A (p.Pro965=) rs41265493 0.00819
NM_014989.7(RIMS1):c.438C>T (p.Arg146=) rs142196418 0.00298
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=) rs190562383 0.00108
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
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.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_014989.7(RIMS1):c.798A>G (p.Glu266=) rs755868505 0.00016
NM_014989.7(RIMS1):c.1679-20641C>T rs374026843 0.00014
NM_014989.7(RIMS1):c.33C>A (p.Arg11=) rs571540836 0.00003
NM_014989.7(RIMS1):c.4236C>T (p.Asp1412=) rs1025135186 0.00003
NM_014989.7(RIMS1):c.2708G>A (p.Arg903Gln) rs776822598 0.00001
NM_014989.7(RIMS1):c.2659C>A (p.Arg887=)
NM_014989.7(RIMS1):c.2771-11_2771-5dup rs760008174
NM_014989.7(RIMS1):c.3116+8C>T rs1277312139
NM_014989.7(RIMS1):c.3194+1G>A rs1057519205
NM_014989.7(RIMS1):c.3478G>T (p.Asp1160Tyr)
NM_014989.7(RIMS1):c.3935A>G (p.Gln1312Arg)
NM_014989.7(RIMS1):c.4250A>T (p.Asp1417Val)
NM_014989.7(RIMS1):c.4251C>T (p.Asp1417=)

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