ClinVar Miner

List of variants reported as pathogenic for Hydrocephalus, nonsyndromic, autosomal recessive 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) rs1886637325
NM_001080414.4(CCDC88C):c.5058+1G>A rs387907320
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) rs1567043467
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) rs369384363
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)

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