List of variants reported as uncertain significance 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001130004.2(ACTN1):c.676+9C>T	rs202246872	0.00063
NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile)	rs1371015727	0.00002
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	rs387907347	0.00001
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala)	rs2140158660
NM_001130004.2(ACTN1):c.1040T>C (p.Leu347Pro)	rs2140158523
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr)	rs1454176065
NM_001130004.2(ACTN1):c.2186A>G (p.Asn729Ser)	rs759548966
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)	rs1594751712
NM_001130004.2(ACTN1):c.2252T>C (p.Phe751Ser)
NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro)
NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr)	rs1566588502
NM_001130004.2(ACTN1):c.340+10_340+13del
NM_001130004.2(ACTN1):c.715A>G (p.Met239Val)	rs2140240626
NM_001130004.2(ACTN1):c.767A>C (p.Glu256Ala)
NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr)	rs2140159523

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