List of variants in gene CCDC88C reported as uncertain significance for Hydrocephalus, nonsyndromic, autosomal recessive 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001080414.4(CCDC88C):c.4768+6T>C	rs183312399	0.00068
NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys)	rs767030060	0.00021
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)	rs372168003	0.00016
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)	rs587782989	0.00011
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly)	rs548699524	0.00006
NM_001080414.4(CCDC88C):c.3358-5G>A	rs762398207	0.00002
NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys)	rs761288523	0.00002
NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala)	rs1014956719	0.00001
NM_001080414.4(CCDC88C):c.1120C>T (p.Arg374Trp)
NM_001080414.4(CCDC88C):c.161+5G>A	rs1887078001
NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu)	rs762288121
NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg)	rs1891200660
NM_001080414.4(CCDC88C):c.4465C>T (p.Arg1489Ter)
NM_001080414.4(CCDC88C):c.6016_6017del (p.Lys2006fs)

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