ClinVar Miner

List of variants in gene ATP1A2, LOC126805890 studied for Migraine, familial hemiplegic, 2

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Total variants: 10
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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.736A>G (p.Asn246Asp) rs764917849 0.00002
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000702.4(ATP1A2):c.571G>A (p.Val191Met) rs869025341
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.631-6C>T rs886045416
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.671C>T (p.Thr224Ile) rs1230517801

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