ClinVar Miner

List of variants reported as benign for Lafora disease by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483

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