ClinVar Miner

List of variants studied for Hydrocephalus, nonsyndromic, autosomal recessive 1 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001080414.4(CCDC88C):c.161+5G>A	rs1887078001
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)	rs1886637325

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