ClinVar Miner

List of variants in gene EPM2A reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)	rs147399860	0.00087
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)	rs141975071	0.00016

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