ClinVar Miner

List of variants reported as pathogenic for alternating hemiplegia of childhood by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
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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