ClinVar Miner

List of variants studied for autosomal recessive ataxia, Beauce type by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs) rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs) rs1064794555
NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile) rs2098746138
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs) rs2083582255

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