ClinVar Miner

List of variants in gene ATP1A2 reported as benign by Eurofins NTD LLC (GA)

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693

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