ClinVar Miner

List of variants in gene ATP1A2 reported as likely pathogenic for Familial hemiplegic migraine

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.2563+2T>C rs775008062 0.00003
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln) rs747238010 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys) rs765818392 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met) rs746383817
NM_000702.4(ATP1A2):c.12+1G>A
NM_000702.4(ATP1A2):c.1652-1G>T
NM_000702.4(ATP1A2):c.1965-2A>G
NM_000702.4(ATP1A2):c.2284+1G>A
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu) rs1570994712
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val) rs2101995847
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu)
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
NM_000702.4(ATP1A2):c.381+1G>A rs2101985522
NM_000702.4(ATP1A2):c.495+2T>C
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu)
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del)

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