ClinVar Miner

List of variants studied for Hydrocephalus, nonsyndromic, autosomal recessive 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001080414.4(CCDC88C):c.1597G>T (p.Glu533Ter)
NM_001080414.4(CCDC88C):c.4465C>T (p.Arg1489Ter)
NM_001080414.4(CCDC88C):c.6016_6017del (p.Lys2006fs)

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