ClinVar Miner

List of variants studied for Congenital cerebellar hypoplasia; Feeding difficulties; Ichthyosis; Microcephaly; Abnormality of the skin; Dry skin; Paroxysmal dystonia; Abnormality of salivation

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	rs1218912272

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