ClinVar Miner

List of variants reported as uncertain significance for dilated cardiomyopathy 1DD by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.*2202C>T rs571001448 0.00510
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001134363.3(RBM20):c.*3289C>T rs144896119 0.00310
NM_001134363.3(RBM20):c.*512G>T rs182895280 0.00249
NM_001134363.3(RBM20):c.*513A>T rs188211368 0.00249
NM_001134363.3(RBM20):c.*484C>G rs190879731 0.00247
NM_001134363.3(RBM20):c.*999A>G rs138114979 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.*1768C>T rs11195350 0.00155
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.*3197A>G rs545844933 0.00109
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001134363.3(RBM20):c.*2787A>T rs566666703 0.00068
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.*1867G>A rs149300217 0.00058
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
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.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001134363.3(RBM20):c.*1170G>A rs182850328 0.00034
NM_001134363.3(RBM20):c.*985G>C rs191479781 0.00033
NM_001134363.3(RBM20):c.*2148G>A rs886046717 0.00032
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001134363.3(RBM20):c.*800G>A rs557045846 0.00029
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.*251A>T rs190896982 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.*1863A>G rs528368238 0.00019
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=) rs781373863 0.00019
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126 0.00016
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met) rs371181124 0.00014
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134363.3(RBM20):c.*263C>T rs182152382 0.00010
NM_001134363.3(RBM20):c.*1666G>A rs886046715 0.00009
NM_001134363.3(RBM20):c.*2951T>C rs886046725 0.00009
NM_001134363.3(RBM20):c.*941C>T rs548271514 0.00008
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=) rs575854668 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.*1452T>C rs906770120 0.00007
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.*3004T>A rs3793704 0.00006
NM_001134363.3(RBM20):c.*3250A>G rs886046726 0.00006
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly) rs758720475 0.00006
NM_001134363.3(RBM20):c.*2528C>A rs886046720 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) rs1446760969 0.00005
NM_001134363.3(RBM20):c.*1619A>G rs927932901 0.00004
NM_001134363.3(RBM20):c.*3256C>T rs573002478 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.2991G>A (p.Val997=) rs756276591 0.00004
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) rs886046699 0.00004
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) rs772708424 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134363.3(RBM20):c.*1517C>T rs886046714 0.00003
NM_001134363.3(RBM20):c.*1866C>T rs886046716 0.00003
NM_001134363.3(RBM20):c.*1919A>C rs1275431798 0.00003
NM_001134363.3(RBM20):c.*2054T>C rs867192062 0.00003
NM_001134363.3(RBM20):c.*3259G>A rs540217875 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.1429+10G>T rs778742738 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) rs199842148 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001134363.3(RBM20):c.*1101T>G rs1259201107 0.00001
NM_001134363.3(RBM20):c.*2296A>C rs981333913 0.00001
NM_001134363.3(RBM20):c.*234T>C rs553497591 0.00001
NM_001134363.3(RBM20):c.*2576T>C rs1012545532 0.00001
NM_001134363.3(RBM20):c.*2737G>A rs886046721 0.00001
NM_001134363.3(RBM20):c.*2867G>A rs886046723 0.00001
NM_001134363.3(RBM20):c.*442G>A rs370248434 0.00001
NM_001134363.3(RBM20):c.-31T>C rs1192388291 0.00001
NM_001134363.3(RBM20):c.1002A>G (p.Thr334=) rs760124791 0.00001
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) rs777080028 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.1276-8T>A rs886046704 0.00001
NM_001134363.3(RBM20):c.1338-4C>G rs753677364 0.00001
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala) rs967504449 0.00001
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys) rs377259044 0.00001
NM_001134363.3(RBM20):c.3317-10T>C rs772243422 0.00001
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=) rs892459274 0.00001
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) rs886046700 0.00001
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val) rs940901720 0.00001
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys) rs886046701 0.00001
NM_001134363.3(RBM20):c.*1166G>T rs952991912
NM_001134363.3(RBM20):c.*1201T>A rs886046713
NM_001134363.3(RBM20):c.*1723G>A rs770927031
NM_001134363.3(RBM20):c.*20A>T rs886046707
NM_001134363.3(RBM20):c.*222C>T rs1845126435
NM_001134363.3(RBM20):c.*2443C>G rs528082523
NM_001134363.3(RBM20):c.*2673A>C rs1272311496
NM_001134363.3(RBM20):c.*2749C>T rs986169450
NM_001134363.3(RBM20):c.*2839C>G rs886046722
NM_001134363.3(RBM20):c.*2925T>G rs886046724
NM_001134363.3(RBM20):c.*3296T>G rs886046727
NM_001134363.3(RBM20):c.*3427G>T rs1016358175
NM_001134363.3(RBM20):c.*552G>A rs74156303
NM_001134363.3(RBM20):c.*628T>G rs886046710
NM_001134363.3(RBM20):c.*72T>G rs886046708
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro) rs886046698
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.160C>G (p.Pro54Ala) rs1861841938
NM_001134363.3(RBM20):c.201G>A (p.Lys67=) rs752370319
NM_001134363.3(RBM20):c.2177G>A (p.Arg726Gln) rs756116415
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2819A>G (p.Lys940Arg) rs886046705
NM_001134363.3(RBM20):c.2853C>T (p.Thr951=) rs1844908621
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp) rs886046706
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.425T>C (p.Val142Ala) rs1844333085
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) rs1564844065
NM_001134363.3(RBM20):c.874G>T (p.Val292Leu) rs886046702

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.