ClinVar Miner

List of variants in gene RBM20 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) rs554690506 0.00031
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) rs377623370 0.00029
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) rs768548680 0.00005
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.2331T>C (p.Asp777=) rs1428730678 0.00001
NM_001134363.3(RBM20):c.1527+9G>A rs1057521554
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr) rs876657976
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del) rs1554898774

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.