ClinVar Miner

List of variants in gene RRP8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015324.4(RRP8):c.723C>T (p.Arg241=) rs73395104 0.01794
NM_015324.4(RRP8):c.1048-6C>T rs115960367 0.00414
NM_015324.4(RRP8):c.1018C>G (p.Pro340Ala) rs150846415 0.00157
NM_015324.4(RRP8):c.845G>A (p.Arg282His) rs150955423 0.00031
NM_015324.4(RRP8):c.571C>T (p.Arg191Trp) rs142862258 0.00029
NM_015324.4(RRP8):c.1252-5C>T rs193168898 0.00024
NM_015324.4(RRP8):c.980G>A (p.Arg327Gln) rs200201140 0.00014
NM_015324.4(RRP8):c.169C>T (p.Pro57Ser) rs201951445 0.00009
NM_015324.4(RRP8):c.734G>A (p.Arg245Gln) rs199533609 0.00009
NM_015324.4(RRP8):c.554G>A (p.Arg185His) rs374541016 0.00007
NM_015324.4(RRP8):c.572G>A (p.Arg191Gln) rs148100776 0.00007
NM_015324.4(RRP8):c.892C>T (p.Arg298Cys) rs557521273 0.00007
NM_015324.4(RRP8):c.553C>T (p.Arg185Cys) rs200715606 0.00005
NM_015324.4(RRP8):c.173G>C (p.Ser58Thr) rs190461845 0.00003
NM_015324.4(RRP8):c.296A>G (p.Gln99Arg) rs755124703 0.00003
NM_015324.4(RRP8):c.749G>A (p.Arg250Gln) rs775133121 0.00003
NM_015324.4(RRP8):c.803G>A (p.Arg268His) rs759913983 0.00003
NM_015324.4(RRP8):c.979C>T (p.Arg327Trp) rs766876049 0.00003
NM_015324.4(RRP8):c.1214G>A (p.Arg405Gln) rs760343940 0.00002
NM_015324.4(RRP8):c.1239G>T (p.Lys413Asn) rs138539459 0.00002
NM_015324.4(RRP8):c.1241T>C (p.Ile414Thr) rs375596324 0.00002
NM_015324.4(RRP8):c.127A>G (p.Thr43Ala) rs572375783 0.00002
NM_015324.4(RRP8):c.134G>A (p.Arg45Gln) rs752628806 0.00002
NM_015324.4(RRP8):c.609G>C (p.Gln203His) rs1047332693 0.00002
NM_015324.4(RRP8):c.172A>G (p.Ser58Gly) rs753999999 0.00001
NM_015324.4(RRP8):c.764A>G (p.Asn255Ser) rs770514260 0.00001
NM_015324.4(RRP8):c.844C>T (p.Arg282Cys) rs747416881 0.00001
NM_015324.4(RRP8):c.916C>T (p.Arg306Trp) rs778075365 0.00001
NM_015324.4(RRP8):c.110G>A (p.Arg37His)
NM_015324.4(RRP8):c.113G>A (p.Arg38His) rs758749897
NM_015324.4(RRP8):c.1166A>C (p.Lys389Thr) rs2493723818
NM_015324.4(RRP8):c.1232G>A (p.Gly411Asp) rs200309492
NM_015324.4(RRP8):c.1247C>T (p.Ser416Phe) rs1404809755
NM_015324.4(RRP8):c.1303C>G (p.Pro435Ala) rs1202462843
NM_015324.4(RRP8):c.1321G>C (p.Ala441Pro) rs2493723210
NM_015324.4(RRP8):c.146C>T (p.Ala49Val)
NM_015324.4(RRP8):c.213G>C (p.Arg71Ser)
NM_015324.4(RRP8):c.235G>C (p.Ala79Pro) rs768278894
NM_015324.4(RRP8):c.272A>G (p.Lys91Arg)
NM_015324.4(RRP8):c.334A>G (p.Arg112Gly)
NM_015324.4(RRP8):c.433G>C (p.Ala145Pro) rs11040934
NM_015324.4(RRP8):c.457C>G (p.Gln153Glu) rs1207440743
NM_015324.4(RRP8):c.481G>A (p.Gly161Ser)
NM_015324.4(RRP8):c.484A>G (p.Ser162Gly)
NM_015324.4(RRP8):c.587G>A (p.Arg196Lys)
NM_015324.4(RRP8):c.685G>T (p.Asp229Tyr) rs2493725503
NM_015324.4(RRP8):c.691C>G (p.His231Asp) rs1338223993
NM_015324.4(RRP8):c.715C>G (p.Arg239Gly) rs745570524
NM_015324.4(RRP8):c.806T>C (p.Leu269Pro)
NM_015324.4(RRP8):c.823G>A (p.Glu275Lys)
NM_015324.4(RRP8):c.884C>T (p.Pro295Leu) rs752630159
NM_015324.4(RRP8):c.895A>G (p.Ile299Val)
NM_015324.4(RRP8):c.898G>A (p.Ala300Thr) rs200483016
NM_015324.4(RRP8):c.911G>A (p.Arg304His)
NM_015324.4(RRP8):c.932T>A (p.Val311Glu) rs768874713
NM_015324.4(RRP8):c.961C>T (p.Arg321Cys)
NM_015324.4(RRP8):c.979C>G (p.Arg327Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.