ClinVar Miner

List of variants in gene combination EPM2A, EPM2A-DT, LOC129997381 reported as not provided for Lafora disease

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_005670.4(EPM2A):c.163C>A (p.Gln55Lys)	rs187930476	0.01101
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)	rs374338349

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