ClinVar Miner

List of variants in gene ATP1A2, LOC126805890 studied for alternating hemiplegia

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.748+84T>A rs7548116 0.58333
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302 0.00005
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000702.4(ATP1A2):c.748+3G>A rs767929498 0.00001
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.631-6C>T rs886045416
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.719T>A (p.Ile240Asn) rs1651548209

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