ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001

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