ClinVar Miner

List of variants reported as likely pathogenic for Macrothrombocytopenia, isolated, 1, autosomal dominant by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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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.779T>C (p.Phe260Ser)	rs1057517996

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