ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations 1 by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val) rs878853279
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) rs878853257
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val) rs878853258
NM_006086.4(TUBB3):c.967A>G (p.Met323Val) rs878853256

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