ClinVar Miner

List of variants reported as uncertain significance for Cognitive impairment; Cerebral atrophy; Memory impairment; Hypoplasia of the corpus callosum; Migraine with aura; Increased CSF lactate; Increased serum pyruvate by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)	rs1553403624
NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	rs757962437

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