ClinVar Miner

List of variants studied for Cerebellar ataxia by Institute of Human Genetics, University of Wuerzburg

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001278064.2(GRM1):c.951-6T>A rs758215901 0.00001
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val) rs955458642
NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp) rs1385053433
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter) rs959109094

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