List of variants reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg)	rs1594768482
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys)	rs1594760036
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	rs387907348
NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His)	rs1383792017
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	rs387907345
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys)	rs2140302103

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