ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys) rs863224853
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847

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