ClinVar Miner

List of variants reported as likely benign 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: 9
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.167-19C>T rs115862064 0.01959
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_001070.5(TUBG1):c.813C>T (p.Thr271=) rs147337786 0.00113
NM_004522.3(KIF5C):c.1964G>A (p.Arg655Lys) rs954203955 0.00001
NM_001070.5(TUBG1):c.925C>T (p.Arg309Ter)
NM_001098511.3(KIF2A):c.2044G>A (p.Ala682Thr) rs61748225
NM_004522.3(KIF5C):c.1018G>A (p.Glu340Lys) rs1574791491
NM_004522.3(KIF5C):c.2660A>G (p.Lys887Arg)

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