ClinVar Miner

List of variants reported as pathogenic for Dystonia 12 by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)	rs2145959393
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)	rs267606670

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