ClinVar Miner

List of variants reported as likely pathogenic 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: 15
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HGVS dbSNP gnomAD frequency
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)
NM_006086.4(TUBB3):c.1139G>C (p.Arg380Pro) rs777149755
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
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.424G>A (p.Gly142Ser) rs1131691895
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)
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.862G>A (p.Glu288Lys) rs1057521924
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala) rs2030417656
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.982G>A (p.Glu328Lys) rs1057518686

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