ClinVar Miner

List of variants in gene CCDC88C reported as likely benign for congenital hydrocephalus

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
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.1050+9C>T rs372411289 0.00015

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