ClinVar Miner

List of variants studied for Complex cortical dysplasia with other brain malformations 5 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3
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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.533C>T (p.Thr178Met) rs886039447
NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu) rs2533524634

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