List of variants reported as uncertain significance for Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.-148T>G	rs769525784	0.00026
NM_152296.5(ATP1A3):c.-64A>G	rs373531937	0.00006
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)	rs1353417724	0.00002
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)	rs781786336	0.00001
NM_152296.5(ATP1A3):c.-130GACG[3]	rs879996553
NM_152296.5(ATP1A3):c.1192+7G>A	rs374826826
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del)	rs1064795403

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