List of variants in gene TUBB studied for complex cortical dysplasia with other brain malformations 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_178014.4(TUBB):c.1057G>A (p.Val353Ile)	rs587777356
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)	rs587777357
NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)
NM_178014.4(TUBB):c.139A>G (p.Ile47Val)	rs1776361528
NM_178014.4(TUBB):c.155A>G (p.Asn52Ser)
NM_178014.4(TUBB):c.161C>T (p.Ala54Val)	rs1776362492
NM_178014.4(TUBB):c.244G>C (p.Gly82Arg)	rs1776397001
NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)
NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)	rs1179402804
NM_178014.4(TUBB):c.299A>G (p.Asn100Ser)	rs2127749060
NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp)	rs2127749078
NM_178014.4(TUBB):c.331G>A (p.Glu111Lys)
NM_178014.4(TUBB):c.352G>T (p.Asp118Tyr)	rs2127749124
NM_178014.4(TUBB):c.443G>C (p.Gly148Ala)
NM_178014.4(TUBB):c.448C>T (p.Leu150Phe)	rs1581668624
NM_178014.4(TUBB):c.506T>C (p.Val169Ala)
NM_178014.4(TUBB):c.599A>G (p.Tyr200Cys)	rs1776439193
NM_178014.4(TUBB):c.662C>T (p.Thr221Ile)	rs878853162
NM_178014.4(TUBB):c.670G>T (p.Asp224Tyr)
NM_178014.4(TUBB):c.710C>G (p.Thr237Ser)	rs2127749496
NM_178014.4(TUBB):c.852del (p.Thr285fs)
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	rs1554202416
NM_178014.4(TUBB):c.895A>G (p.Met299Val)	rs587777355
NM_178014.4(TUBB):c.917G>C (p.Arg306Pro)	rs2127749740
NM_178014.4(TUBB):c.961A>G (p.Met321Val)	rs2127749786

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