ClinVar Miner

List of variants studied for alternating hemiplegia of childhood by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (8):
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Total variants: 14
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HGVS dbSNP
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp)
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr) rs1553245907
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887

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