ClinVar Miner

List of variants in gene CALR3 studied for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_145046.5(CALR3):c.381G>A (p.Gln127=) rs3810198 0.66498
NM_145046.5(CALR3):c.972C>T (p.Tyr324=) rs9305079 0.65389
NM_145046.5(CALR3):c.702C>T (p.Asp234=) rs10403020 0.16282
NM_145046.5(CALR3):c.397+10C>T rs3810197 0.12582
NM_145046.5(CALR3):c.820G>A (p.Val274Ile) rs12459238 0.02726
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_145046.5(CALR3):c.1012-9T>C rs144370982 0.00268
NM_145046.5(CALR3):c.483C>A (p.Ile161=) rs143158265 0.00190
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) rs75099211 0.00138
NM_145046.5(CALR3):c.125A>G (p.Asn42Ser) rs149634686 0.00123
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00118
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_145046.5(CALR3):c.398-4G>A rs374008030 0.00040
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_145046.5(CALR3):c.787-3C>G rs201265595 0.00026
NM_145046.5(CALR3):c.761C>T (p.Pro254Leu) rs761736548 0.00021
NM_145046.5(CALR3):c.639A>G (p.Glu213=) rs377026384 0.00017
NM_145046.5(CALR3):c.215G>A (p.Gly72Asp) rs182376945 0.00014
NM_145046.5(CALR3):c.243C>T (p.Phe81=) rs201321577 0.00014
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_145046.5(CALR3):c.780G>A (p.Pro260=) rs775009764 0.00012
NM_145046.5(CALR3):c.378G>A (p.Ser126=) rs374869347 0.00011
NM_145046.5(CALR3):c.787-11T>G rs199588341 0.00011
NM_145046.5(CALR3):c.1066C>T (p.Arg356Cys) rs150430942 0.00010
NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys) rs777429499 0.00010
NM_145046.5(CALR3):c.511C>T (p.Leu171=) rs752204583 0.00009
NM_145046.5(CALR3):c.923G>T (p.Arg308Ile) rs369518093 0.00008
NM_145046.5(CALR3):c.724G>A (p.Asp242Asn) rs146669521 0.00007
NM_145046.5(CALR3):c.849C>T (p.Thr283=) rs142902333 0.00007
NM_145046.5(CALR3):c.1003G>A (p.Glu335Lys) rs199535524 0.00006
NM_145046.5(CALR3):c.159G>A (p.Ser53=) rs372912264 0.00006
NM_145046.5(CALR3):c.323G>C (p.Gly108Ala) rs139061471 0.00006
NM_145046.5(CALR3):c.217C>G (p.Arg73Gly) rs199561391 0.00005
NM_145046.5(CALR3):c.1089G>T (p.Leu363=) rs201203591 0.00004
NM_145046.5(CALR3):c.356A>G (p.Gln119Arg) rs946376334 0.00004
NM_145046.5(CALR3):c.594C>T (p.Tyr198=) rs145046810 0.00004
NM_145046.5(CALR3):c.619A>G (p.Lys207Glu) rs111870908 0.00004
NM_145046.5(CALR3):c.632C>T (p.Pro211Leu) rs772004043 0.00004
NM_145046.5(CALR3):c.641C>G (p.Ser214Trp) rs550089146 0.00004
NM_145046.5(CALR3):c.786+9C>A rs1159720687 0.00004
NM_145046.5(CALR3):c.918+16C>T rs777906520 0.00004
NM_145046.5(CALR3):c.1087C>T (p.Leu363=) rs199900092 0.00003
NM_145046.5(CALR3):c.193+17G>A rs921498420 0.00003
NM_145046.5(CALR3):c.21G>C (p.Gln7His) rs201886703 0.00003
NM_145046.5(CALR3):c.34T>G (p.Cys12Gly) rs764357332 0.00003
NM_145046.5(CALR3):c.642G>A (p.Ser214=) rs200669493 0.00003
NM_145046.5(CALR3):c.1110G>A (p.Arg370=) rs774421614 0.00002
NM_145046.5(CALR3):c.1129C>G (p.Gln377Glu) rs372514243 0.00002
NM_145046.5(CALR3):c.249G>A (p.Pro83=) rs570064234 0.00002
NM_145046.5(CALR3):c.398-11C>A rs546157618 0.00002
NM_145046.5(CALR3):c.500G>A (p.Gly167Asp) rs746917889 0.00002
NM_145046.5(CALR3):c.627G>A (p.Thr209=) rs777454147 0.00002
NM_145046.5(CALR3):c.648T>C (p.Asp216=) rs372889302 0.00002
NM_145046.5(CALR3):c.679-7T>C rs730880060 0.00002
NM_145046.5(CALR3):c.732C>T (p.Asn244=) rs201198066 0.00002
NM_145046.5(CALR3):c.832C>T (p.Arg278Cys) rs543953490 0.00002
NM_145046.5(CALR3):c.92-7C>G rs377099405 0.00002
NM_145046.5(CALR3):c.1080G>A (p.Glu360=) rs752458256 0.00001
NM_145046.5(CALR3):c.1094C>T (p.Ser365Leu) rs768015132 0.00001
NM_145046.5(CALR3):c.113T>G (p.Leu38Trp) rs780211279 0.00001
NM_145046.5(CALR3):c.1147G>A (p.Glu383Lys) rs368434498 0.00001
NM_145046.5(CALR3):c.127G>A (p.Asp43Asn) rs745435624 0.00001
NM_145046.5(CALR3):c.139G>C (p.Gly47Arg) rs1279334739 0.00001
NM_145046.5(CALR3):c.156G>A (p.Ser52=) rs779192527 0.00001
NM_145046.5(CALR3):c.16G>A (p.Val6Ile) rs747264355 0.00001
NM_145046.5(CALR3):c.193+1G>A rs374865616 0.00001
NM_145046.5(CALR3):c.194-2A>G rs763294530 0.00001
NM_145046.5(CALR3):c.216C>T (p.Gly72=) rs577809057 0.00001
NM_145046.5(CALR3):c.224A>T (p.Tyr75Phe) rs780394746 0.00001
NM_145046.5(CALR3):c.271C>T (p.Leu91=) rs765069343 0.00001
NM_145046.5(CALR3):c.277A>G (p.Ile93Val) rs2093396133 0.00001
NM_145046.5(CALR3):c.28G>A (p.Ala10Thr) rs3810201 0.00001
NM_145046.5(CALR3):c.291A>G (p.Val97=) rs1056692608 0.00001
NM_145046.5(CALR3):c.298G>A (p.Glu100Lys) rs766276146 0.00001
NM_145046.5(CALR3):c.309G>A (p.Met103Ile) rs772666036 0.00001
NM_145046.5(CALR3):c.31A>G (p.Ile11Val) rs755784741 0.00001
NM_145046.5(CALR3):c.377C>T (p.Ser126Leu) rs752960232 0.00001
NM_145046.5(CALR3):c.398-17G>C rs779762872 0.00001
NM_145046.5(CALR3):c.398-9T>C rs1344157973 0.00001
NM_145046.5(CALR3):c.488G>A (p.Cys163Tyr) rs778791995 0.00001
NM_145046.5(CALR3):c.492+9T>C rs780317722 0.00001
NM_145046.5(CALR3):c.493-15C>G rs775571848 0.00001
NM_145046.5(CALR3):c.521T>C (p.Leu174Pro) rs1248561462 0.00001
NM_145046.5(CALR3):c.545A>G (p.Tyr182Cys) rs1035181108 0.00001
NM_145046.5(CALR3):c.546T>C (p.Tyr182=) rs369476772 0.00001
NM_145046.5(CALR3):c.600G>C (p.Trp200Cys) rs2093384836 0.00001
NM_145046.5(CALR3):c.633G>A (p.Pro211=) rs748099861 0.00001
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile) rs368506422 0.00001
NM_145046.5(CALR3):c.691C>G (p.His231Asp) rs1555775874 0.00001
NM_145046.5(CALR3):c.705C>T (p.Ala235=) rs1330398267 0.00001
NM_145046.5(CALR3):c.733G>A (p.Gly245Ser) rs753917463 0.00001
NM_145046.5(CALR3):c.740T>A (p.Leu247Gln) rs961599926 0.00001
NM_145046.5(CALR3):c.759G>A (p.Ala253=) rs1011639048 0.00001
NM_145046.5(CALR3):c.786+18A>T rs780747845 0.00001
NM_145046.5(CALR3):c.786+3G>T rs1413720533 0.00001
NM_145046.5(CALR3):c.787G>C (p.Asp263His) rs200056222 0.00001
NM_145046.5(CALR3):c.858G>A (p.Leu286=) rs1275633743 0.00001
NM_145046.5(CALR3):c.91+6G>A rs748014562 0.00001
NM_145046.5(CALR3):c.961G>A (p.Asp321Asn) rs143334090 0.00001
NM_145046.5(CALR3):c.962A>G (p.Asp321Gly) rs985096797 0.00001
NM_145046.5(CALR3):c.96T>C (p.His32=) rs144355944 0.00001
NM_145046.5(CALR3):c.97T>C (p.Trp33Arg) rs1396322901 0.00001
NC_000019.10:g.(?_16482440)_(16496139_?)dup
NC_000019.9:g.(?_16593241)_(16606940_?)dup
NC_000019.9:g.(?_16593241)_(16606960_?)dup
NC_000019.9:g.(?_16601158)_(16601401_?)dup
NC_000019.9:g.(?_16606542)_(16606940_?)del
NM_145046.5(CALR3):c.-13_5del (p.Met1_Ala2del) rs2122155319
NM_145046.5(CALR3):c.1002C>T (p.Gly334=)
NM_145046.5(CALR3):c.1011+11C>T
NM_145046.5(CALR3):c.1011+12G>T rs777158814
NM_145046.5(CALR3):c.1011+16T>A
NM_145046.5(CALR3):c.1012-10_1012-9del rs1358738890
NM_145046.5(CALR3):c.1013G>T (p.Gly338Val)
NM_145046.5(CALR3):c.1036A>G (p.Ile346Val)
NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp)
NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg)
NM_145046.5(CALR3):c.1064C>T (p.Ala355Val)
NM_145046.5(CALR3):c.1067G>A (p.Arg356His) rs140290452
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu) rs140290452
NM_145046.5(CALR3):c.1068C>T (p.Arg356=)
NM_145046.5(CALR3):c.1095G>A (p.Ser365=) rs200844516
NM_145046.5(CALR3):c.1095G>C (p.Ser365=) rs200844516
NM_145046.5(CALR3):c.1104T>A (p.Ile368=) rs1555775535
NM_145046.5(CALR3):c.1113C>T (p.His371=)
NM_145046.5(CALR3):c.1114G>A (p.Glu372Lys) rs140440387
NM_145046.5(CALR3):c.1114G>C (p.Glu372Gln) rs140440387
NM_145046.5(CALR3):c.1114G>T (p.Glu372Ter)
NM_145046.5(CALR3):c.1120T>G (p.Tyr374Asp) rs1555775532
NM_145046.5(CALR3):c.1129C>A (p.Gln377Lys)
NM_145046.5(CALR3):c.1129_1132del (p.Gln377fs) rs1426645883
NM_145046.5(CALR3):c.1131A>G (p.Gln377=) rs767040811
NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu)
NM_145046.5(CALR3):c.1152T>G (p.Leu384=) rs1443146127
NM_145046.5(CALR3):c.129C>T (p.Asp43=) rs1599723855
NM_145046.5(CALR3):c.142C>T (p.His48Tyr)
NM_145046.5(CALR3):c.158C>T (p.Ser53Leu) rs2122154073
NM_145046.5(CALR3):c.163A>G (p.Lys55Glu)
NM_145046.5(CALR3):c.181G>A (p.Glu61Lys) rs1060502978
NM_145046.5(CALR3):c.192dup (p.Gly65fs) rs1430239846
NM_145046.5(CALR3):c.193+15A>G
NM_145046.5(CALR3):c.193+15_193+16del
NM_145046.5(CALR3):c.193+1del
NM_145046.5(CALR3):c.194-13A>G
NM_145046.5(CALR3):c.194-14T>A
NM_145046.5(CALR3):c.194-3A>G
NM_145046.5(CALR3):c.195T>C (p.Gly65=) rs1599721013
NM_145046.5(CALR3):c.1A>G (p.Met1Val)
NM_145046.5(CALR3):c.1A>T (p.Met1Leu) rs776813962
NM_145046.5(CALR3):c.212A>G (p.Asn71Ser)
NM_145046.5(CALR3):c.217C>T (p.Arg73Ter)
NM_145046.5(CALR3):c.226G>A (p.Ala76Thr) rs2122142920
NM_145046.5(CALR3):c.231del (p.Ser78fs)
NM_145046.5(CALR3):c.238C>T (p.Arg80Cys)
NM_145046.5(CALR3):c.239G>C (p.Arg80Pro) rs746369368
NM_145046.5(CALR3):c.248C>T (p.Pro83Leu)
NM_145046.5(CALR3):c.273G>A (p.Leu91=) rs759314483
NM_145046.5(CALR3):c.274G>A (p.Val92Ile) rs776598394
NM_145046.5(CALR3):c.286A>G (p.Thr96Ala)
NM_145046.5(CALR3):c.293A>G (p.Lys98Arg)
NM_145046.5(CALR3):c.30C>T (p.Ala10=)
NM_145046.5(CALR3):c.314G>C (p.Cys105Ser)
NM_145046.5(CALR3):c.345A>G (p.Ala115=) rs2122142658
NM_145046.5(CALR3):c.349A>G (p.Ile117Val) rs1209076661
NM_145046.5(CALR3):c.360G>T (p.Lys120Asn) rs1599720904
NM_145046.5(CALR3):c.368A>C (p.Asn123Thr) rs2093395920
NM_145046.5(CALR3):c.37A>G (p.Met13Val) rs2093408003
NM_145046.5(CALR3):c.384C>G (p.Tyr128Ter) rs2122142566
NM_145046.5(CALR3):c.387T>C (p.Tyr129=) rs2122142562
NM_145046.5(CALR3):c.38T>C (p.Met13Thr) rs878855223
NM_145046.5(CALR3):c.397+11G>A
NM_145046.5(CALR3):c.397+13G>A
NM_145046.5(CALR3):c.397+7T>A
NM_145046.5(CALR3):c.398-15T>A
NM_145046.5(CALR3):c.398-20G>A
NM_145046.5(CALR3):c.39G>A (p.Met13Ile)
NM_145046.5(CALR3):c.39G>C (p.Met13Ile) rs1022237662
NM_145046.5(CALR3):c.404A>G (p.Asp135Gly) rs2093387443
NM_145046.5(CALR3):c.407T>C (p.Ile136Thr)
NM_145046.5(CALR3):c.418G>T (p.Asp140Tyr)
NM_145046.5(CALR3):c.421A>G (p.Ile141Val) rs2122133603
NM_145046.5(CALR3):c.445C>T (p.His149Tyr) rs2122133577
NM_145046.5(CALR3):c.452A>G (p.Lys151Arg) rs1297452902
NM_145046.5(CALR3):c.466G>A (p.Glu156Lys) rs1442412253
NM_145046.5(CALR3):c.466G>C (p.Glu156Gln)
NM_145046.5(CALR3):c.471C>T (p.Asn157=)
NM_145046.5(CALR3):c.476A>C (p.Lys159Thr) rs2093387315
NM_145046.5(CALR3):c.484A>G (p.Arg162Gly) rs1172919657
NM_145046.5(CALR3):c.493-1G>A rs1599718289
NM_145046.5(CALR3):c.493-1G>T rs1599718289
NM_145046.5(CALR3):c.493-6A>G rs566199743
NM_145046.5(CALR3):c.516C>T (p.Tyr172=)
NM_145046.5(CALR3):c.517A>G (p.Thr173Ala)
NM_145046.5(CALR3):c.520_527del (p.Leu174fs) rs2122131286
NM_145046.5(CALR3):c.535G>T (p.Asp179Tyr) rs2122131270
NM_145046.5(CALR3):c.538C>A (p.Leu180Ile)
NM_145046.5(CALR3):c.579C>T (p.Ser193=)
NM_145046.5(CALR3):c.587T>C (p.Ile196Thr)
NM_145046.5(CALR3):c.601A>C (p.Asn201His)
NM_145046.5(CALR3):c.602A>G (p.Asn201Ser) rs1599718220
NM_145046.5(CALR3):c.604T>C (p.Leu202=)
NM_145046.5(CALR3):c.608C>T (p.Thr203Ile)
NM_145046.5(CALR3):c.623A>C (p.Glu208Ala)
NM_145046.5(CALR3):c.626C>T (p.Thr209Met) rs746871999
NM_145046.5(CALR3):c.63C>G (p.Val21=) rs1163504118
NM_145046.5(CALR3):c.641C>T (p.Ser214Leu) rs550089146
NM_145046.5(CALR3):c.65A>G (p.Tyr22Cys)
NM_145046.5(CALR3):c.667A>G (p.Asn223Asp)
NM_145046.5(CALR3):c.674C>T (p.Ala225Val)
NM_145046.5(CALR3):c.676C>G (p.Gln226Glu)
NM_145046.5(CALR3):c.679-3dup rs756560192
NM_145046.5(CALR3):c.681C>A (p.Asp227Glu)
NM_145046.5(CALR3):c.690G>A (p.Lys230=)
NM_145046.5(CALR3):c.697C>G (p.Leu233Val) rs2093383229
NM_145046.5(CALR3):c.6C>G (p.Ala2=)
NM_145046.5(CALR3):c.703G>A (p.Ala235Thr) rs2093383195
NM_145046.5(CALR3):c.710C>G (p.Thr237Ser) rs1329331101
NM_145046.5(CALR3):c.714C>T (p.Ser238=) rs2093383172
NM_145046.5(CALR3):c.723C>A (p.Ser241Arg) rs753171373
NM_145046.5(CALR3):c.724G>C (p.Asp242His)
NM_145046.5(CALR3):c.728G>A (p.Trp243Ter) rs1167634332
NM_145046.5(CALR3):c.738C>T (p.Asp246=) rs780488544
NM_145046.5(CALR3):c.741G>C (p.Leu247=) rs1188902703
NM_145046.5(CALR3):c.743A>C (p.Asp248Ala)
NM_145046.5(CALR3):c.766C>T (p.Leu256Phe)
NM_145046.5(CALR3):c.770A>C (p.Gln257Pro)
NM_145046.5(CALR3):c.772_777delinsGCCAGG (p.Lys258_Pro259delinsAlaArg) rs1599717620
NM_145046.5(CALR3):c.777C>A (p.Pro259=) rs143252466
NM_145046.5(CALR3):c.779C>T (p.Pro260Leu)
NM_145046.5(CALR3):c.780G>T (p.Pro260=) rs775009764
NM_145046.5(CALR3):c.786+14_786+15del
NM_145046.5(CALR3):c.787-14dup rs1267486642
NM_145046.5(CALR3):c.787-8del rs1267486642
NM_145046.5(CALR3):c.813T>C (p.His271=)
NM_145046.5(CALR3):c.816A>G (p.Lys272=) rs2122128398
NM_145046.5(CALR3):c.833G>A (p.Arg278His) rs1247489343
NM_145046.5(CALR3):c.852C>G (p.Asp284Glu)
NM_145046.5(CALR3):c.860C>T (p.Thr287Met)
NM_145046.5(CALR3):c.891T>C (p.Ile297=)
NM_145046.5(CALR3):c.896C>T (p.Ala299Val)
NM_145046.5(CALR3):c.91+15C>T
NM_145046.5(CALR3):c.916C>A (p.Gln306Lys) rs1599717443
NM_145046.5(CALR3):c.923G>A (p.Arg308Lys) rs369518093
NM_145046.5(CALR3):c.941A>G (p.Asp314Gly)
NM_145046.5(CALR3):c.941A>T (p.Asp314Val) rs1233176565
NM_145046.5(CALR3):c.960T>C (p.Asp320=)
NM_145046.5(CALR3):c.969G>A (p.Glu323=)
NM_145046.5(CALR3):c.973G>A (p.Ala325Thr)
NM_145046.5(CALR3):c.992C>T (p.Ala331Val)

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