ClinVar Miner

List of variants studied for Lissencephaly due to TUBA1A mutation by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla) rs2498863253
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043

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