ClinVar Miner

List of variants reported as risk factor for Autism spectrum disorder; Periventricular nodular heterotopia; Cognitive impairment; Hypoplasia of the corpus callosum; White matter deficit

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter) rs1561315170
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) rs1580026238

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