ClinVar Miner

List of variants reported as pathogenic for autosomal dominant cerebellar ataxia by GeneReviews

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096 0.00007
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55]) rs60216939
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) rs386134171
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) rs386134158
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) rs386134159
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) rs386134160
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) rs386134161
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) rs386134162
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) rs386134165
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.417C>A (p.His139Gln) rs386134169
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe) rs386134170
NM_002739.5(PRKCG):c.530_919del
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]
Single allele

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