ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly) rs1114167341
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) rs1114167327
NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) rs1114167332
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335

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