ClinVar Miner

List of variants in gene ATP1A2 reported as pathogenic by OMIM

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala) rs121918613
NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala) rs1057518514
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) rs28933398
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) rs28933399
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter) rs1558010146
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.295_296dup (p.Ile100fs) rs1558003446
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) rs121918612

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