ClinVar Miner

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

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Total variants: 3
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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.779T>C (p.Phe260Ser) rs1057517996

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