ClinVar Miner

List of variants reported as likely pathogenic by Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia

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Total variants: 19
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HGVS dbSNP
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro) rs1114167322
NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr) rs1114167340
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) rs1114167331
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs) rs1553939749
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) rs1114167333
NM_001267550.2(TTN):c.51436+1G>A rs761807131
NM_001267550.2(TTN):c.54768del (p.Ser18258fs) rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs) rs1114167323
NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter) rs1114167338
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_004572.3(PKP2):c.2035C>T (p.His679Tyr) rs757922359
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly) rs1114167345
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737

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