ClinVar Miner

List of variants studied for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.2986del (p.Thr996fs) rs587777679 0.00003
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs) rs587777680
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter) rs587777681
NM_005559.4(LAMA1):c.588+2T>G rs587777677
NM_005559.4(LAMA1):c.7965-15_7965-3del rs587777678

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