ClinVar Miner

List of variants reported as likely benign 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile)	rs188284396	0.00004
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser)	rs751123192	0.00001
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)

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