ClinVar Miner

List of variants studied for alternating hemiplegia of childhood 2 by OMIM

Included ClinVar conditions (4):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532

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