ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His) rs1660612706
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614

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