ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations 6 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_178014.4(TUBB):c.155A>G (p.Asn52Ser) rs2536600951
NM_178014.4(TUBB):c.895A>G (p.Met299Val) rs587777355
NM_178014.4(TUBB):c.961A>G (p.Met321Val) rs2127749786

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