ClinVar Miner

List of variants in gene RBM20 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
GRCh37/hg19 10q25.2(chr10:112516278-112583094)x1
NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter) rs1554898987
NM_001134363.3(RBM20):c.1385del (p.Ala462fs) rs2135050138
NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) rs794729145
NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro) rs2135078982
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) rs1114167331
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) rs794729149
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) rs267607003
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134363.3(RBM20):c.2501dup (p.Asp834fs) rs794729159
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) rs2135120754
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) rs1564664312
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2738A>T (p.Glu913Val)
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.2802del (p.Ile935fs) rs2135121046
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs) rs1844915022
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter) rs2135041646

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.