ClinVar Miner

List of variants in gene combination ATP1A2, LOC126805890 reported as uncertain significance by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp) rs764917849 0.00002
NM_000702.4(ATP1A2):c.500C>A (p.Ala167Asp) rs2101986130
NM_000702.4(ATP1A2):c.500C>G (p.Ala167Gly)
NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu) rs2524857306
NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr) rs2524857437
NM_000702.4(ATP1A2):c.596C>A (p.Ala199Asp) rs1276000993
NM_000702.4(ATP1A2):c.617C>A (p.Ser206Tyr)
NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr) rs1057523810
NM_000702.4(ATP1A2):c.655G>A (p.Glu219Lys) rs2524859326
NM_000702.4(ATP1A2):c.673C>A (p.Arg225Ser)
NM_000702.4(ATP1A2):c.674G>A (p.Arg225His) rs778741638
NM_000702.4(ATP1A2):c.701C>T (p.Pro234Leu) rs2524859456
NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys) rs1558004341

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