ClinVar Miner

List of variants in gene TUBB2A studied for complex cortical dysplasia with other brain malformations 5

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.564T>G (p.Ser188=) rs17849443 0.55272
NM_001069.3(TUBB2A):c.167-19C>T rs115862064 0.01959
NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr) rs76334433 0.00105
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys) rs1054331 0.00002
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr) rs2113785077
NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu) rs1762593142
NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu) rs1581496432
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr) rs1554122911
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val) rs1581496351
NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His) rs1762626709
NM_001069.3(TUBB2A):c.266A>G (p.Asn89Ser)
NM_001069.3(TUBB2A):c.278-7C>T rs1581497078
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser) rs1064795249
NM_001069.3(TUBB2A):c.580G>A (p.Glu194Lys) rs1554122959
NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu)
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939
NM_001069.3(TUBB2A):c.875A>G (p.Gln292Arg)
NM_001069.3(TUBB2A):c.928T>C (p.Tyr310His) rs2113785190
NM_001069.3(TUBB2A):c.935C>T (p.Thr312Met) rs1762595316
NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu) rs2113785156

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