ClinVar Miner

List of variants in gene ATP1A2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 19
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu) rs533400580
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.4(ATP1A2):c.2093T>C (p.Ile698Thr) rs1553245737
NM_000702.4(ATP1A2):c.2187T>C (p.Ile729=) rs751808345
NM_000702.4(ATP1A2):c.2212G>A (p.Val738Ile) rs1558008569
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080
NM_000702.4(ATP1A2):c.2622T>C (p.Gly874=) rs886043454
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.275G>A (p.Arg92His) rs774275559
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529
NM_000702.4(ATP1A2):c.3014T>C (p.Ile1005Thr)
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892
NM_000702.4(ATP1A2):c.909C>T (p.Ser303=) rs1422290691

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