ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1DD by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.*1104G>A rs11195349 0.34292
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.*1553G>A rs41292598 0.18418
NM_001134363.3(RBM20):c.*546C>T rs72836956 0.17904
NM_001134363.3(RBM20):c.*834G>T rs874241 0.11850
NM_001134363.3(RBM20):c.*2866C>T rs12260847 0.08970
NM_001134363.3(RBM20):c.*448C>T rs79603535 0.05270
NM_001134363.3(RBM20):c.*552G>C rs74156303 0.04099
NM_001134363.3(RBM20):c.*386T>C rs77555440 0.03119
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.*2722T>G rs61862946 0.01952
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.*417G>A rs77569236 0.00703
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.*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.3373G>A (p.Glu1125Lys) rs116908219 0.00333
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.150A>T (p.Pro50=) rs376936285 0.00244
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.3170G>A (p.Arg1057Gln) rs188054898 0.00107
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.*1539G>A rs552540113 0.00008
NM_001134363.3(RBM20):c.*2229A>G rs538388396 0.00008
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.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
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

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