ClinVar Miner

List of variants in gene TUBB2B reported as likely pathogenic for bilateral frontal polymicrogyria

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu) rs1581525728
NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu) rs2113818913
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His) rs1135401758
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg) rs2113819240
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe) rs201922441
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile) rs1757276859
NM_178012.5(TUBB2B):c.632G>A (p.Cys211Tyr)
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.908G>A (p.Cys303Tyr) rs2113819019
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502

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