ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_000256.3(MYBPC3):c.1090+453C>T rs2095893477
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs) rs1595844714
NM_000256.3(MYBPC3):c.2738-2A>T rs1595842632
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.952A>C (p.Thr318Pro) rs1566536436
NM_000258.3(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001927.4(DES):c.376G>A (p.Val126Met) rs876657770
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter) rs1581816089
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404

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