List of variants in gene TUBB1 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_030773.4(TUBB1):c.554C>T (p.Ala185Val)	rs146846923	0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	rs121918555	0.00003
NM_030773.4(TUBB1):c.28G>C (p.Gly10Arg)	rs747029495	0.00002
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)	rs371852125	0.00002
NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys)	rs1421750582
NM_030773.4(TUBB1):c.1194del (p.Trp397_Tyr398insTer)	rs1601239696
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)	rs767380935
NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys)	rs1601238563
NM_030773.4(TUBB1):c.305C>T (p.Ala102Val)	rs1014420517
NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg)	rs778975827
NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu)	rs1601238822
NM_030773.4(TUBB1):c.704del (p.Gly235fs)	rs770554119
NM_030773.4(TUBB1):c.752G>A (p.Arg251His)	rs770226644
NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp)	rs1601239213
NM_030773.4(TUBB1):c.773T>C (p.Val258Ala)	rs1601239226
NM_030773.4(TUBB1):c.862G>A (p.Glu288Lys)	rs916577364
NM_030773.4(TUBB1):c.945C>A (p.Cys315Ter)	rs1601239459

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