ClinVar Miner

List of variants in gene CCDC88C reported as uncertain significance for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
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.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser) rs368545314 0.00004
NM_001080414.4(CCDC88C):c.1888G>A (p.Ala630Thr) rs773899627 0.00001
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr) rs917595672 0.00001
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys) rs751049970 0.00001
NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg) rs1891910013
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
NM_001080414.4(CCDC88C):c.3320ACA[1] (p.Asn1108del)
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) rs1407640264
NM_001080414.4(CCDC88C):c.3554A>C (p.Tyr1185Ser)
NM_001080414.4(CCDC88C):c.5440C>T (p.Arg1814Trp)
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu) rs771028975
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)

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