ClinVar Miner

List of variants in gene TUBB2A reported as pathogenic for complex cortical dysplasia with other brain malformations

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663

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