ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Center for Human Genetics, University of Leuven

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_003673.4(TCAP):c.259C>T (p.Arg87Trp) rs777518512 0.00002
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met) rs777349648 0.00001
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) rs1336353571 0.00001
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu) rs2231126
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.13592C>G (p.Ser4531Ter) rs2154317682
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.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)
NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
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_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu) rs868793059
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_172201.2(KCNE2):c.285G>T (p.Lys95Asn) rs1555837113

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