ClinVar Miner

List of variants in gene GLUL reported as pathogenic for Developmental and epileptic encephalopathy 116

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_001033044.4(GLUL):c.-13-2A>G	rs2101936731
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)	rs2101936697

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