ClinVar Miner

List of variants reported as likely pathogenic for Platelet-type bleeding disorder 15 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr) rs769375482
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) rs747559032
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln) rs2140067871
NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)

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