ClinVar Miner

List of variants in gene ESPN reported as likely 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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_031475.3(ESPN):c.1464+1G>A	rs752649606	0.00001
NM_031475.3(ESPN):c.292C>T (p.Gln98Ter)	rs1220317427

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