ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val) rs797045634
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301

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