ClinVar Miner

List of variants studied for cerebellar ataxia by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp) rs1135401818
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821

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