ClinVar Miner

List of variants reported as likely pathogenic for Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847

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