ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 40

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Total variants: 27
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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.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
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.786G>T (p.Arg262Ser) rs368545314 0.00004
NM_001080414.4(CCDC88C):c.1888G>A (p.Ala630Thr) rs773899627 0.00001
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys) rs956104232 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.1702C>T (p.Arg568Ter)
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.3554A>C (p.Tyr1185Ser)
NM_001080414.4(CCDC88C):c.5440C>T (p.Arg1814Trp)
NM_001080414.4(CCDC88C):c.5668C>G (p.Pro1890Ala)
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu) rs771028975
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)

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