ClinVar Miner

List of variants in gene RBM20 reported as likely pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763

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