ClinVar Miner

List of variants in gene ATP1A2 reported as likely pathogenic

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Total variants: 21
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1017+5G>A rs1085307953
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830
NM_000702.4(ATP1A2):c.117+1G>A rs1553244022
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.1817C>A (p.Ala606Glu) rs1553245183
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2102del (p.Gly701fs) rs1064794725
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.2698G>A (p.Gly900Arg) rs1553245908
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln)
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000702.4(ATP1A2):c.882_897del (p.Gly295fs) rs1064796771

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