ClinVar Miner

List of variants in gene ATP1A2 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val) rs201977531 0.00003
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln) rs781023681 0.00003
NM_000702.4(ATP1A2):c.2977C>T (p.Leu993Phe) rs1303848624 0.00002
NM_000702.4(ATP1A2):c.2123T>C (p.Ile708Thr) rs1341609289 0.00001
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941 0.00001
NM_000702.4(ATP1A2):c.2126T>C (p.Val709Ala) rs1651906904
NM_000702.4(ATP1A2):c.2142C>G (p.Asp714Glu) rs139022921
NM_000702.4(ATP1A2):c.2262C>T (p.Ser754=) rs1651911111
NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser) rs1553245780
NM_000702.4(ATP1A2):c.2564-7C>T rs1558009070
NM_000702.4(ATP1A2):c.2669G>A (p.Arg890Gln) rs868485498
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr) rs1553245907
NM_000702.4(ATP1A2):c.2681A>G (p.Asp894Gly) rs1570995422
NM_000702.4(ATP1A2):c.3020G>C (p.Arg1007Pro) rs754878991
NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr) rs753074130
NM_000702.4(ATP1A2):c.839C>T (p.Thr280Ile) rs1553244736
NM_000702.4(ATP1A2):c.841C>T (p.Pro281Ser) rs751809252

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