ClinVar Miner

List of variants reported as 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: 12
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.89944064G>A
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
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.533C>T (p.Thr178Met) rs747480526
NM_006086.4(TUBB3):c.577G>A (p.Val193Met) rs2030404834
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.763G>A (p.Val255Ile) rs1057517908
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val) rs878853258
NM_006086.4(TUBB3):c.967A>G (p.Met323Val) rs878853256

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