ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_006086.4(TUBB3):c.167-6C>T rs144873806 0.00031
NM_006086.4(TUBB3):c.1200C>T (p.Gly400=) rs144689076 0.00004
NM_006086.4(TUBB3):c.1170G>A (p.Arg390=) rs587784503 0.00003
NC_000016.10:g.89944064G>A
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.1139G>C (p.Arg380Pro) rs777149755
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val) rs878853279
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.1343G>A (p.Gly448Asp)
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006086.4(TUBB3):c.166+4A>C
NM_006086.4(TUBB3):c.178G>T (p.Val60Leu) rs2151092282
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.313C>A (p.His105Asn)
NM_006086.4(TUBB3):c.344C>T (p.Ser115Leu)
NM_006086.4(TUBB3):c.350T>C (p.Leu117Pro)
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) rs1131691895
NM_006086.4(TUBB3):c.446C>T (p.Thr149Met) rs2030399551
NM_006086.4(TUBB3):c.484C>T (p.Arg162Cys)
NM_006086.4(TUBB3):c.508G>A (p.Val170Met) rs1344725531
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006086.4(TUBB3):c.572_574del (p.Gln191del) rs2151092816
NM_006086.4(TUBB3):c.577G>A (p.Val193Met) rs2030404834
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) rs878853257
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu) rs886041459
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006086.4(TUBB3):c.740A>G (p.Asn247Ser) rs587784507
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala) rs2030417656
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val) rs878853258
NM_006086.4(TUBB3):c.925C>T (p.Arg309Cys) rs2151092961
NM_006086.4(TUBB3):c.929A>G (p.Tyr310Cys) rs2151092964
NM_006086.4(TUBB3):c.935C>T (p.Thr312Met) rs777771368
NM_006086.4(TUBB3):c.958C>T (p.Arg320Cys)
NM_006086.4(TUBB3):c.967A>G (p.Met323Val) rs878853256
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys) rs1057518686
NM_006086.4(TUBB3):c.993G>A (p.Leu331=) rs61743716
NM_178012.5(TUBB2B):c.1105G>T (p.Gly369Cys) rs1581525702
NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg) rs2113820411

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