ClinVar Miner

List of variants in gene CCDC88C studied for congenital hydrocephalus

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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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.114C>T (p.Tyr38=) rs45437097 0.16963
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser) rs7145583 0.00602
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001080414.4(CCDC88C):c.4768+6T>C rs183312399 0.00068
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
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.1085C>T (p.Thr362Ile)
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.3404A>G (p.Gln1135Arg) rs1407640264
NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg) rs1891200660
NM_001080414.4(CCDC88C):c.5058+1G>A rs387907320
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) rs1567043467
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) rs369384363

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