ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy 19

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ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_145046.5(CALR3):c.787-3C>G rs201265595 0.00026
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.1066C>T (p.Arg356Cys) rs150430942 0.00009
NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys) rs777429499 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.323G>C (p.Gly108Ala) rs139061471 0.00006
NM_145046.5(CALR3):c.1003G>A (p.Glu335Lys) rs199535524 0.00005
NM_145046.5(CALR3):c.217C>G (p.Arg73Gly) rs199561391 0.00005
NM_145046.5(CALR3):c.39G>A (p.Met13Ile) rs1022237662 0.00005
NM_145046.5(CALR3):c.356A>G (p.Gln119Arg) rs946376334 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.21G>C (p.Gln7His) rs201886703 0.00003
NM_145046.5(CALR3):c.34T>G (p.Cys12Gly) rs764357332 0.00003
NM_145046.5(CALR3):c.520C>A (p.Leu174Ile) rs143671909 0.00003
NM_145046.5(CALR3):c.667A>G (p.Asn223Asp) rs368652672 0.00003
NM_145046.5(CALR3):c.1129C>G (p.Gln377Glu) rs372514243 0.00002
NM_145046.5(CALR3):c.163A>G (p.Lys55Glu) rs766911825 0.00002
NM_145046.5(CALR3):c.212A>G (p.Asn71Ser) rs369859530 0.00002
NM_145046.5(CALR3):c.65A>G (p.Tyr22Cys) rs964981557 0.00002
NM_145046.5(CALR3):c.832C>T (p.Arg278Cys) rs543953490 0.00002
NM_145046.5(CALR3):c.973G>A (p.Ala325Thr) rs1398000694 0.00002
NM_145046.5(CALR3):c.1036A>G (p.Ile346Val) rs768826027 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.142C>T (p.His48Tyr) rs556663033 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.194-3A>G rs1273156902 0.00001
NM_145046.5(CALR3):c.224A>T (p.Tyr75Phe) rs780394746 0.00001
NM_145046.5(CALR3):c.238C>T (p.Arg80Cys) rs756445681 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.309G>A (p.Met103Ile) rs772666036 0.00001
NM_145046.5(CALR3):c.314G>C (p.Cys105Ser) rs747738664 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.38T>C (p.Met13Thr) rs878855223 0.00001
NM_145046.5(CALR3):c.407T>C (p.Ile136Thr) rs903597980 0.00001
NM_145046.5(CALR3):c.418G>T (p.Asp140Tyr) rs762455628 0.00001
NM_145046.5(CALR3):c.500G>A (p.Gly167Asp) rs746917889 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.580G>A (p.Gly194Ser) rs764707663 0.00001
NM_145046.5(CALR3):c.600G>C (p.Trp200Cys) rs2093384836 0.00001
NM_145046.5(CALR3):c.608C>T (p.Thr203Ile) rs150376706 0.00001
NM_145046.5(CALR3):c.623A>C (p.Glu208Ala) rs1350003595 0.00001
NM_145046.5(CALR3):c.676C>G (p.Gln226Glu) rs1466430342 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.703G>A (p.Ala235Thr) rs2093383195 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.766C>T (p.Leu256Phe) rs1183484360 0.00001
NM_145046.5(CALR3):c.770A>C (p.Gln257Pro) rs774405654 0.00001
NM_145046.5(CALR3):c.779C>T (p.Pro260Leu) rs1003038871 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.860C>T (p.Thr287Met) rs772912504 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.97T>C (p.Trp33Arg) rs1396322901 0.00001
NC_000019.10:g.(?_16482440)_(16496139_?)dup
NC_000019.9:g.(?_16591405)_(16593616_?)del
NC_000019.9:g.(?_16593241)_(16606940_?)dup
NC_000019.9:g.(?_16593241)_(16606960_?)dup
NC_000019.9:g.(?_16593553)_(16606960_?)dup
NC_000019.9:g.(?_16595954)_(16601401_?)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.1013G>T (p.Gly338Val) rs998776696
NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp) rs2093376463
NM_145046.5(CALR3):c.1053A>C (p.Glu351Asp)
NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg) rs1389735275
NM_145046.5(CALR3):c.1064C>T (p.Ala355Val) rs1021462598
NM_145046.5(CALR3):c.1067G>A (p.Arg356His) rs140290452
NM_145046.5(CALR3):c.1078G>A (p.Glu360Lys)
NM_145046.5(CALR3):c.1080G>T (p.Glu360Asp)
NM_145046.5(CALR3):c.1081_1082del (p.Glu361fs)
NM_145046.5(CALR3):c.1114G>A (p.Glu372Lys) rs140440387
NM_145046.5(CALR3):c.1114G>T (p.Glu372Ter) rs140440387
NM_145046.5(CALR3):c.1120T>G (p.Tyr374Asp) rs1555775532
NM_145046.5(CALR3):c.1129C>A (p.Gln377Lys) rs372514243
NM_145046.5(CALR3):c.1129_1132del (p.Gln377fs) rs1426645883
NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu) rs1174834467
NM_145046.5(CALR3):c.1151T>C (p.Leu384Pro)
NM_145046.5(CALR3):c.137T>C (p.Phe46Ser) rs780590548
NM_145046.5(CALR3):c.158C>T (p.Ser53Leu) rs2122154073
NM_145046.5(CALR3):c.179_180del (p.Lys60fs)
NM_145046.5(CALR3):c.181G>A (p.Glu61Lys) rs1060502978
NM_145046.5(CALR3):c.187G>C (p.Asp63His)
NM_145046.5(CALR3):c.192dup (p.Gly65fs) rs1430239846
NM_145046.5(CALR3):c.193+1del rs1313895173
NM_145046.5(CALR3):c.193+4A>T
NM_145046.5(CALR3):c.193+6T>C
NM_145046.5(CALR3):c.1A>G (p.Met1Val) rs776813962
NM_145046.5(CALR3):c.1A>T (p.Met1Leu) rs776813962
NM_145046.5(CALR3):c.217C>T (p.Arg73Ter) rs199561391
NM_145046.5(CALR3):c.218G>A (p.Arg73Gln)
NM_145046.5(CALR3):c.226G>A (p.Ala76Thr) rs2122142920
NM_145046.5(CALR3):c.231del (p.Ser78fs) rs770476504
NM_145046.5(CALR3):c.23T>C (p.Leu8Pro)
NM_145046.5(CALR3):c.248C>T (p.Pro83Leu) rs764305082
NM_145046.5(CALR3):c.268A>C (p.Thr90Pro)
NM_145046.5(CALR3):c.274G>A (p.Val92Ile) rs776598394
NM_145046.5(CALR3):c.286A>G (p.Thr96Ala) rs1370414096
NM_145046.5(CALR3):c.293A>G (p.Lys98Arg) rs2513195441
NM_145046.5(CALR3):c.298G>A (p.Glu100Lys) rs766276146
NM_145046.5(CALR3):c.349A>G (p.Ile117Val) rs1209076661
NM_145046.5(CALR3):c.349A>T (p.Ile117Phe)
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.398-10T>G
NM_145046.5(CALR3):c.39G>C (p.Met13Ile) rs1022237662
NM_145046.5(CALR3):c.400C>T (p.Pro134Ser)
NM_145046.5(CALR3):c.404A>G (p.Asp135Gly) rs2093387443
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) rs1442412253
NM_145046.5(CALR3):c.471C>T (p.Asn157=) rs2513191044
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.488G>A (p.Cys163Tyr) rs778791995
NM_145046.5(CALR3):c.493-1G>A rs1599718289
NM_145046.5(CALR3):c.493-1G>T rs1599718289
NM_145046.5(CALR3):c.500del (p.Gly167fs)
NM_145046.5(CALR3):c.517A>G (p.Thr173Ala) rs374187284
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) rs2513190099
NM_145046.5(CALR3):c.587T>C (p.Ile196Thr) rs1258428984
NM_145046.5(CALR3):c.591G>C (p.Glu197Asp)
NM_145046.5(CALR3):c.601A>C (p.Asn201His) rs775484097
NM_145046.5(CALR3):c.602A>G (p.Asn201Ser) rs1599718220
NM_145046.5(CALR3):c.626C>A (p.Thr209Lys)
NM_145046.5(CALR3):c.626C>T (p.Thr209Met) rs746871999
NM_145046.5(CALR3):c.641C>T (p.Ser214Leu) rs550089146
NM_145046.5(CALR3):c.674C>T (p.Ala225Val) rs2513189885
NM_145046.5(CALR3):c.679-3dup rs756560192
NM_145046.5(CALR3):c.681C>A (p.Asp227Glu) rs1227929044
NM_145046.5(CALR3):c.685G>A (p.Glu229Lys)
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) rs146669521
NM_145046.5(CALR3):c.728G>A (p.Trp243Ter) rs1167634332
NM_145046.5(CALR3):c.743A>C (p.Asp248Ala) rs10411092
NM_145046.5(CALR3):c.751T>C (p.Trp251Arg)
NM_145046.5(CALR3):c.804del (p.Gly269fs)
NM_145046.5(CALR3):c.812A>G (p.His271Arg) rs1306282315
NM_145046.5(CALR3):c.833G>A (p.Arg278His) rs1247489343
NM_145046.5(CALR3):c.833G>C (p.Arg278Pro)
NM_145046.5(CALR3):c.852C>G (p.Asp284Glu) rs2513188311
NM_145046.5(CALR3):c.863A>G (p.Gln288Arg)
NM_145046.5(CALR3):c.896C>T (p.Ala299Val) rs2513188211
NM_145046.5(CALR3):c.907G>A (p.Glu303Lys)
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) rs1233176565
NM_145046.5(CALR3):c.941A>T (p.Asp314Val) rs1233176565
NM_145046.5(CALR3):c.992C>T (p.Ala331Val) rs766349117

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