ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance 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_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	rs754221948	0.00001
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)	rs199473099

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