ClinVar Miner

List of variants in gene RANBP2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr) rs61748150 0.00849
NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=) rs76461420 0.00790
NM_006267.5(RANBP2):c.73-6T>A rs201485597 0.00516
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) rs145886643 0.00488
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) rs61748148 0.00486
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) rs141230513 0.00290
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) rs140860785 0.00290
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_006267.5(RANBP2):c.7850-6T>G rs183569993 0.00270
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) rs148677577 0.00204
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) rs2433786 0.00117
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00108
NM_006267.5(RANBP2):c.9369+4G>A rs139387463 0.00108
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) rs147080366 0.00106
NM_006267.5(RANBP2):c.1284A>G (p.Arg428=) rs142514679 0.00076
NM_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) rs200940828 0.00072
NM_006267.5(RANBP2):c.2520T>C (p.Arg840=) rs150539591 0.00071
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_006267.5(RANBP2):c.2212C>T (p.Pro738Ser) rs201793011 0.00045
NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln) rs187011794 0.00036
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) rs138022657 0.00036
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) rs200750445 0.00022
NM_006267.5(RANBP2):c.2340G>A (p.Pro780=) rs2912839 0.00019
NM_006267.5(RANBP2):c.834G>A (p.Leu278=) rs199652721 0.00019
NM_006267.5(RANBP2):c.342A>T (p.Ala114=) rs140650569 0.00016
NM_006267.5(RANBP2):c.3419C>T (p.Ser1140Leu) rs756874724 0.00015
NM_006267.5(RANBP2):c.5979C>T (p.Ser1993=) rs757493880 0.00014
NM_006267.5(RANBP2):c.1225A>G (p.Ile409Val) rs201087513 0.00012
NM_006267.5(RANBP2):c.3170C>T (p.Pro1057Leu) rs150151795 0.00008
NM_006267.5(RANBP2):c.1911C>T (p.Asp637=) rs202210294 0.00004
NM_006267.5(RANBP2):c.2296G>C (p.Gly766Arg) rs773278648 0.00004
NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) rs763321558 0.00003
NM_006267.5(RANBP2):c.6643C>G (p.Pro2215Ala) rs775798185 0.00003
NM_006267.5(RANBP2):c.2275G>A (p.Gly759Arg) rs779220689 0.00002
NM_006267.5(RANBP2):c.2107G>A (p.Glu703Lys) rs372328602 0.00001
NM_006267.5(RANBP2):c.5093C>T (p.Thr1698Ile) rs755069100 0.00001
NM_006267.5(RANBP2):c.1001_1003delinsGAG (p.Ile334_Lys335delinsArgGlu) rs2149198433
NM_006267.5(RANBP2):c.1023T>C (p.Asn341=)
NM_006267.5(RANBP2):c.1123A>T (p.Thr375Ser)
NM_006267.5(RANBP2):c.1514C>G (p.Ser505Cys)
NM_006267.5(RANBP2):c.3202G>C (p.Gly1068Arg)
NM_006267.5(RANBP2):c.3558T>A (p.Thr1186=)
NM_006267.5(RANBP2):c.4271_4274del (p.Ile1423_Cys1424insTer)
NM_006267.5(RANBP2):c.4332T>C (p.Ala1444=) rs1573811420
NM_006267.5(RANBP2):c.4705C>T (p.Pro1569Ser)
NM_006267.5(RANBP2):c.4794A>G (p.Gly1598=)
NM_006267.5(RANBP2):c.4862C>T (p.Ala1621Val)
NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) rs755789696
NM_006267.5(RANBP2):c.7849+936G>T
NM_006267.5(RANBP2):c.8826A>G (p.Arg2942=)

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.