ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_016529.6(ATP8A2):c.3184-88G>A rs9511998 0.98717
NM_016529.6(ATP8A2):c.2384+55C>T rs2296003 0.86506
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_016529.6(ATP8A2):c.1185+71A>G rs7332442 0.65665
NM_016529.6(ATP8A2):c.2008-4G>C rs7335339 0.61047
NM_016529.6(ATP8A2):c.3183+95C>T rs2249800 0.52080

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