ClinVar Miner

List of variants reported as pathogenic for Macrothrombocytopenia, isolated, 1, autosomal dominant by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_030773.4(TUBB1):c.35del (p.Cys12fs)	rs773248042	0.00006
NM_030773.4(TUBB1):c.1267C>T (p.Gln423Ter)	rs767041023	0.00001
NM_030773.4(TUBB1):c.806G>A (p.Gly269Asp)

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