ClinVar Miner

List of variants studied 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: 29
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.676+9C>T rs202246872 0.00063
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile) rs188284396 0.00004
NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile) rs1371015727 0.00002
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser) rs751123192 0.00001
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.1181A>G (p.His394Arg) rs1594768482
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr) rs769375482
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) rs1454176065
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys) rs1594760036
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) rs747559032
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) rs387907348
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His) rs1383792017
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.2213G>A (p.Arg738Gln) rs2140067871
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.2551G>A (p.Val851Ile)
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) rs387907345
NM_001130004.2(ACTN1):c.340+10_340+13del
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys) rs2140302103
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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