ClinVar Miner

List of variants studied for Dystonia 12 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) rs1599706511
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670

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