ClinVar Miner

List of variants studied for cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887

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