ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001276345.2(TNNT2):c.490-1G>C rs111344408 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NC_000011.10:g.47351310delinsAA rs1555123743
NM_000117.3(EMD):c.265+2T>A rs1603365762
NM_000169.3(GLA):c.1042G>C (p.Ala348Pro) rs1603037717
NM_000169.3(GLA):c.869T>C (p.Met290Thr) rs1603038411
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000363.5(TNNI3):c.438A>T (p.Arg146Ser) rs2085712265
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.2358-2A>G rs1956082474
NM_001018005.2(TPM1):c.114G>A (p.Gln38=) rs2031445986
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter) rs1575253896
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
NM_001267550.2(TTN):c.12523_12524del (p.Gln4175fs) rs1574083547
NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs) rs878854371
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.65655del (p.Thr21886fs) rs1575948935
NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) rs1571627006
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488
NM_001458.5(FLNC):c.7385-1G>A rs1585171818
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_004281.4(BAG3):c.568_577del (p.Ser190fs) rs1847161579
NM_004281.4(BAG3):c.836C>A (p.Ser279Ter) rs751261054
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs) rs1452512048
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys) rs57730570
NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) rs1572332762

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