ClinVar Miner

List of variants reported as likely pathogenic for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg) rs2143782472

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