ClinVar Miner

List of variants in gene RBM20 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763

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