ClinVar Miner

List of variants in gene TUBB2B reported as uncertain significance for bilateral frontal polymicrogyria

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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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.1091C>T (p.Ser364Leu)
NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser) rs2113818887
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.178G>A (p.Val60Ile) rs2113819578
NM_178012.5(TUBB2B):c.208C>A (p.Pro70Thr) rs1554126963
NM_178012.5(TUBB2B):c.22C>T (p.Gln8Ter)
NM_178012.5(TUBB2B):c.421G>A (p.Gly141Ser) rs1412515838
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys) rs1085307566
NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr) rs1561826815
NM_178012.5(TUBB2B):c.498C>T (p.Thr166=) rs587784499
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser) rs1581526962
NM_178012.5(TUBB2B):c.607G>C (p.Asp203His)
NM_178012.5(TUBB2B):c.728C>T (p.Pro243Leu) rs1554126902
NM_178012.5(TUBB2B):c.741C>G (p.Asn247Lys) rs1454173126
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu) rs1757274660
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.81G>C (p.Glu27Asp) rs1757291076
NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser) rs587784501

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