ClinVar Miner

List of variants studied for Hydrocephalus, nonsyndromic, autosomal recessive 1

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.1527+128A>G rs1285766 0.98802
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_001080414.4(CCDC88C):c.4630+78G>T rs2277509 0.65846
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_001080414.4(CCDC88C):c.60+8C>A rs3742654 0.41434
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
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.1050+9C>T rs372411289 0.00015
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.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001080414.4(CCDC88C):c.1120C>T (p.Arg374Trp)
NM_001080414.4(CCDC88C):c.1597G>T (p.Glu533Ter)
NM_001080414.4(CCDC88C):c.161+5G>A rs1887078001
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) rs1886637325
NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu) rs762288121
NM_001080414.4(CCDC88C):c.3160C>T (p.Arg1054Ter)
NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg) rs1891200660
NM_001080414.4(CCDC88C):c.4465C>T (p.Arg1489Ter)
NM_001080414.4(CCDC88C):c.5058+1G>A rs387907320
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) rs1567043467
NM_001080414.4(CCDC88C):c.6016_6017del (p.Lys2006fs)
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) rs369384363
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)

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