ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations 7 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn) rs397514567
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro) rs397514569
NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro) rs137853194
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro) rs137853195
NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe) rs878853284
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu) rs137853196

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