ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val) rs193922712 0.00006
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter) rs193922683 0.00002
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857 0.00001
NM_000018.4(ACADVL):c.138+1G>A rs747351687 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000182.5(HADHA):c.1690-2A>G rs1057516217 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter) rs397516469 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.335del (p.Phe112fs) rs764028320
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.62+1G>A rs2071111529
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000117.3(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) rs398123174
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) rs2039122730
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.956-5_957del
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1844del (p.Asn615fs) rs1669575714
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu)
NM_000371.4(TTR):c.208A>C (p.Ser70Arg) rs386134269
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000432.4(MYL2):c.141del (p.Asn47fs) rs2136774043
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1708del (p.Leu570fs) rs1555142994
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2437_2445+41del rs1064792928
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) rs2135120754
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter) rs1559003939
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter) rs1463883512
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs) rs2055544893
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.55200_55204delinsG (p.Val18401fs)
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs) rs2154184570
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter) rs1710057805
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.83339_83342del (p.Lys27780fs)
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs) rs794729353
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)
NM_001267550.2(TTN):c.8983del (p.Glu2995fs)
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.98468dup (p.Asp32823fs) rs2154140040
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs) rs2128940399
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_001985.3(ETFB):c.375+1G>T
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) rs193922668
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3165del (p.Asn1055fs) rs2113691213
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter) rs2113704410
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.1813dup (p.Val605fs)
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.550+1_550+2insA
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter) rs1326389765
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter)
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs) rs2102901937
NM_170707.4(LMNA):c.639+1G>A rs869125101
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter) rs2086610889

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