ClinVar Miner

List of variants reported as likely pathogenic by Center for Human Genetics, University of Leuven

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000256.3(MYBPC3):c.1227-1G>T rs113276889
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs) rs1565628078
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) rs1565625795
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.3191-11_3193del rs1565623216
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs) rs1565631381
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs) rs1565622703
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.927_928delGG rs886037902
NM_000257.4(MYH7):c.1325G>T (p.Arg442Leu) rs730880870
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2576T>C (p.Leu859Pro) rs1566531421
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.952A>C (p.Thr318Pro) rs1566536436
NM_000257.4(MYH7):c.959T>A (p.Val320Glu) rs1566536418
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_001018005.1(TPM1):c.640_645del rs1555409659
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr) rs1553322494
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter) rs1559047711
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.11444del (p.Lys3815fs) rs1574099951
NM_001267550.2(TTN):c.12057dup (p.Ser4020fs)
NM_001267550.2(TTN):c.12645del (p.Gln4215fs)
NM_001267550.2(TTN):c.13115del (p.Val4372fs) rs2154317965
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
NM_001267550.2(TTN):c.50533del (p.Ser16845fs)
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs) rs2055522786
NM_001267550.2(TTN):c.52769G>A (p.Trp17590Ter)
NM_001267550.2(TTN):c.56145dup (p.Leu18716fs)
NM_001267550.2(TTN):c.57297del (p.Asp19100fs)
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.62581_62584dup (p.Leu20862fs)
NM_001267550.2(TTN):c.67157_67161dup (p.Asn22388delinsSerTer)
NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)
NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)
NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)
NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)
NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
NM_001276345.2(TNNT2):c.307A>C (p.Lys103Gln) rs730881122
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter) rs875989805
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser) rs875989802
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs) rs1555165488
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001458.5(FLNC):c.4346C>G (p.Ser1449Ter)
NM_001458.5(FLNC):c.4581-2A>G
NM_001458.5(FLNC):c.4584dup (p.Phe1529fs)
NM_001458.5(FLNC):c.617G>A (p.Trp206Ter)
NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu) rs875989808
NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser) rs1563161306
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459

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