ClinVar Miner

List of variants in gene RBM20 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.*2787A>T rs566666703 0.00068
NM_001134363.3(RBM20):c.*1360G>A rs572337036 0.00048
NM_001134363.3(RBM20):c.*936T>A rs150308379 0.00046
NM_001134363.3(RBM20):c.*2148G>A rs886046717 0.00032
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.*941C>T rs548271514 0.00008
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn) rs541330074 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001134363.3(RBM20):c.*1452T>C rs906770120 0.00007
NM_001134363.3(RBM20):c.*3004T>A rs3793704 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) rs375200447 0.00006
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001134363.3(RBM20):c.*1619A>G rs927932901 0.00004
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) rs748133931 0.00004
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His) rs762725902 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg) rs867232627 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) rs779777625 0.00004
NM_001134363.3(RBM20):c.*2054T>C rs867192062 0.00003
NM_001134363.3(RBM20):c.*511G>A rs886046709 0.00003
NM_001134363.3(RBM20):c.*965G>A rs886046711 0.00003
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro) rs1021465138 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) rs886038858 0.00003
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser) rs780673583 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg) rs989951034 0.00003
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn) rs950210735 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly) rs899167549 0.00002
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) rs1300657058 0.00002
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu) rs977645949 0.00002
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) rs1458326422 0.00002
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=) rs749130573 0.00001
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln) rs878854247 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln) rs780367353 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.1276-8T>A rs886046704 0.00001
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del) rs1229525146 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.1881-1G>C rs1424661837 0.00001
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser) rs767451635 0.00001
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281 0.00001
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp) rs772991270 0.00001
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser) rs1279998131 0.00001
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) rs1051836531 0.00001
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) rs957430941 0.00001
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly) rs1161452943 0.00001
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro) rs1361123068 0.00001
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys) rs1463526980 0.00001
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr) rs890053031 0.00001
NM_001134363.3(RBM20):c.321G>C (p.Gln107His) rs1413181007 0.00001
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys) rs1338307495 0.00001
NM_001134363.3(RBM20):c.359del (p.Leu120fs) rs1173576141 0.00001
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp) rs1060503413 0.00001
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr) rs1033220280 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val) rs940901720 0.00001
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr) rs2134793204
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln) rs368716639
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val) rs1844749476
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr) rs876657976
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) rs1554898759
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter) rs1861836936
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg) rs982286757
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln) rs1844907124
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu) rs947100716
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp) rs886046706
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) rs753102653
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe) rs753102653
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val) rs887276458
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) rs587782973
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) rs727504583
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del) rs1231520936
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val) rs2135041793
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) rs1564844065

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.