ClinVar Miner

List of variants in gene SCNN1A reported as pathogenic by GeneDx

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_001038.6(SCNN1A):c.875+1G>A	rs142439390	0.00001
NM_001038.6(SCNN1A):c.166C>T (p.Arg56Ter)	rs778872550

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