ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations 5 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.620T>C (p.Leu207Pro)
NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu) rs2113785156

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