ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations 7 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_178012.5(TUBB2B):c.111T>C (p.His37=) rs11550264 0.00001
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=) rs17145779
NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe) rs76191712
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.498C>T (p.Thr166=) rs587784499
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser) rs587784501
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502

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