ClinVar Miner

List of variants studied for complex cortical dysplasia with other brain malformations by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu) rs2113785156
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)
NM_006086.4(TUBB3):c.925C>T (p.Arg309Cys) rs2151092961
NM_178012.5(TUBB2B):c.208C>A (p.Pro70Thr) rs1554126963
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile) rs1757276859
NM_178012.5(TUBB2B):c.81G>C (p.Glu27Asp) rs1757291076
NM_178014.4(TUBB):c.352G>T (p.Asp118Tyr) rs2127749124

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