List of variants reported as likely benign 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)	rs143547136	0.00108
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)	rs146053862	0.00061
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)	rs143904999	0.00027
NM_152296.5(ATP1A3):c.2419-7C>T	rs187436315	0.00016
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)	rs782325595	0.00006
NM_152296.5(ATP1A3):c.2418+18C>T	rs369674143	0.00003
NM_152296.5(ATP1A3):c.2819+12G>A	rs782653272	0.00002
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)	rs1238469762	0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)	rs782662538	0.00001
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)	rs376852509

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