ClinVar Miner

List of variants reported for Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018027.5(FRMD4A):c.705G>A (p.Leu235=) rs61755072 0.00698
NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup) rs536647518

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