ClinVar Miner

List of variants reported as uncertain significance for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005559.4(LAMA1):c.7136A>T (p.Asp2379Val)	rs372144286	0.00005
NM_005559.4(LAMA1):c.3052C>T (p.Pro1018Ser)
NM_005559.4(LAMA1):c.6191-29G>A
NM_005559.4(LAMA1):c.7160G>A (p.Trp2387Ter)

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