List of variants reported as pathogenic for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter)	rs374851540	0.00003
NM_005559.4(LAMA1):c.2480G>A (p.Trp827Ter)	rs2144143962
NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter)	rs376548651
NM_005559.4(LAMA1):c.6489+1G>C	rs2144036802

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