List of variants in gene ATP1A2 reported as pathogenic for Developmental and epileptic encephalopathy 98

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)	rs181618883	0.00001
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe)	rs1057521630
NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala)	rs1057518514
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)	rs121918616
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys)	rs796052277
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	rs2101996488

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