ClinVar Miner

List of variants in gene ATP1A3 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
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Total variants: 11
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HGVS dbSNP
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847

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