ClinVar Miner

List of variants reported as not provided for complex cortical dysplasia with other brain malformations

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.266A>G (p.Asn89Ser)
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_006086.4(TUBB3):c.166+4A>C
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.508G>A (p.Val170Met) rs1344725531
NM_006086.4(TUBB3):c.572_574del (p.Gln191del) rs2151092816
NM_178012.5(TUBB2B):c.1057G>A (p.Val353Met)
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg) rs2113820411
NM_178014.4(TUBB):c.1057G>A (p.Val353Ile) rs587777356
NM_178014.4(TUBB):c.917G>C (p.Arg306Pro) rs2127749740

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