ClinVar Miner

List of variants in gene ATP1A2 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09239
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02590
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02067
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00088
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00075
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
NM_000702.4(ATP1A2):c.2520G>A (p.Lys840=) rs587780283 0.00003
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs) rs1651730901
NM_000702.4(ATP1A2):c.3031G>T (p.Gly1011Cys) rs1553246149

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