ClinVar Miner

List of variants studied for alternating hemiplegia of childhood 2 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp) rs1555862098
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2527G>A (p.Ala843Thr)

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