List of variants in gene TUBB1 reported as pathogenic for Macrothrombocytopenia, isolated, 1, autosomal dominant

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.35del (p.Cys12fs)	rs773248042	0.00006
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	rs121918555	0.00003
NM_030773.4(TUBB1):c.1267C>T (p.Gln423Ter)	rs767041023	0.00001
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)	rs1057517996
NM_030773.4(TUBB1):c.806G>A (p.Gly269Asp)

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