ClinVar Miner

List of variants reported as not provided for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NR_131224.1(H19):n.249+135C>T rs431825164 0.00131
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00046
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_001267550.2(TTN):c.34930+2T>C rs749252830 0.00004
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys) rs941573844 0.00003
NM_020297.4(ABCC9):c.4535C>T (p.Thr1512Met) rs554811993 0.00003
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp) rs747857800 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln) rs483352826 0.00002
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg) rs2095879154 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met) rs199473233 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala) rs121913658 0.00001
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr) rs1234650666 0.00001
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) rs999008497 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn) rs369302142 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp) rs762095761 0.00001
NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) rs1322526035 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) rs267607123 0.00001
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) rs41495051 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NC_000011.10:g.2001815G>A rs431825163
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.8483_13459del4977
NC_012920.1:m.8686T>C rs1569484231
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000257.4(MYH7):c.209C>T (p.Thr70Ile) rs1327007939
NM_000257.4(MYH7):c.3711G>C (p.Gln1237His) rs1361182615
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000258.3(MYL3):c.445A>G (p.Met149Val) rs104893748
NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp) rs1553704925
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.4557C>G (p.Phe1519Leu) rs199473642
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.6010C>G (p.Pro2004Ala) rs199473337
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) rs104894501
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) rs104894502
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val) rs1486465466
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001103.4(ACTN2):c.431A>T (p.Gln144Leu) rs1572114671
NM_001122630.2(CDKN1C):c.-3A>G rs1564930879
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) rs122458140
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys) rs2154132721
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) rs1553939605
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.51449del (p.Pro17150fs) rs2055912067
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007
NM_001267550.2(TTN):c.69051A>G (p.Glu23017=) rs770296752
NM_001267550.2(TTN):c.72390G>C (p.Leu24130Phe) rs376664950
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) rs975517733
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys) rs1595861880
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr) rs267607126
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) rs397514616
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) rs281865416
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004380.3(CREBBP):c.383C>A (p.Ser128Tyr) rs55790011
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) rs121908256
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) rs121908255
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg) rs1554219406
NM_006086.4(TUBB3):c.935C>T (p.Thr312Met) rs777771368
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) rs587777134
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_033360.4(KRAS):c.347A>G (p.Asn116Ser) rs202247812
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_182914.3(SYNE2):c.13693C>G (p.Gln4565Glu) rs2153672399
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NR_131224.1(H19):n.-297A>C rs587777745
NR_131224.1(H19):n.-317_-297del rs431825165
NR_131224.1(H19):n.249+1110G>T rs431825167
NR_131224.1(H19):n.249+189G>T rs431825168
NR_131224.1(H19):n.249+510A>T rs431825166
NR_131224.1(H19):n.249+613T>A rs431825169
m.10237T>C rs1556423787
m.10663T>C rs1556423844
m.11253T>C rs200145866
m.11696G>A rs200873900
m.12811T>C rs199974018
m.12848C>T rs267606899
m.13637A>G rs200855215
m.13730G>A rs387906425
m.14279G>A rs869025187
m.14325T>C rs397515505
m.14459G>A rs199476105
m.14482C>A rs199476108
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14498T>C rs869025186
m.14568C>T rs397515506
m.14596A>T rs387906424
m.14831G>A rs199795644
m.3376G>A rs397515612
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4025C>T rs397515509
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4640C>A rs387906426
m.5244G>A rs199476115
m.611G>A rs118203886
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104
m.8363G>A rs118192100
m.9101T>C rs199476134
m.9804G>A rs200613617

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