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

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Total variants: 7

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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.1281C>A (p.Cys427Ter)	rs1457194859	0.00001
NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter)	rs767889331	0.00001
NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg)	rs2143782472
NM_005559.4(LAMA1):c.2962del (p.Tyr988fs)	rs2144126463
NM_005559.4(LAMA1):c.3053del (p.Pro1018fs)	rs764581574
NM_005559.4(LAMA1):c.494del (p.Ile165fs)	rs2144202430

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