ClinVar Miner

List of variants in gene TUBB2B studied for bilateral frontal polymicrogyria

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_178012.5(TUBB2B):c.111T>C (p.His37=) rs11550264 0.00001
NM_178012.5(TUBB2B):c.1057G>A (p.Val353Met)
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu) rs1581525728
NM_178012.5(TUBB2B):c.1091C>T (p.Ser364Leu)
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys) rs1757271243
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.1172G>A (p.Arg391His) rs1581525683
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.1249G>A (p.Asp417Asn) rs397514567
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
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.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg) rs2113820411
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His) rs1135401758
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro) rs397514569
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.514T>C (p.Ser172Pro) rs137853194
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.607G>C (p.Asp203His)
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile) rs1757276859
NM_178012.5(TUBB2B):c.632G>A (p.Cys211Tyr)
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.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.776C>T (p.Pro259Leu)
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu) rs137853196
NM_178012.5(TUBB2B):c.81G>C (p.Glu27Asp) rs1757291076
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.908G>A (p.Cys303Tyr) rs2113819019
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502

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