ClinVar Miner

List of variants in gene ACTN1 studied for Platelet-type bleeding disorder 15

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.676+9C>T rs202246872 0.00063
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) rs145918825 0.00034
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.673G>A (p.Glu225Lys) rs387907350 0.00001
NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]
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.1193A>C (p.Lys398Thr) rs1594768463
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr) rs769375482
NM_001130004.2(ACTN1):c.127T>G (p.Ser43Ala)
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) rs1454176065
NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val) rs1594760140
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys) rs1594760036
NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His) rs751173836
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.1684G>A (p.Asp562Asn)
NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr) rs1594755688
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
NM_001130004.2(ACTN1):c.1973T>C (p.Ile658Thr)
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.2201A>G (p.Gln734Arg) rs1555343284
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala) rs1594751712
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp) rs387907349
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln) rs2140067871
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys) rs1594751659
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.2474G>A (p.Arg825His)
NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile)
NM_001130004.2(ACTN1):c.2504T>A (p.Ile835Asn)
NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)
NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met)
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg) rs192640536
NM_001130004.2(ACTN1):c.29A>G (p.Asn10Ser)
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) rs387907345
NM_001130004.2(ACTN1):c.340+10_340+13del
NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp) rs2140302263
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys) rs2140302103
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del)
NM_001130004.2(ACTN1):c.655C>A (p.Pro219Thr)
NM_001130004.2(ACTN1):c.715A>G (p.Met239Val) rs2140240626
NM_001130004.2(ACTN1):c.767A>C (p.Glu256Ala)
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg) rs1594773549
NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr) rs2140159523
NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys) rs387907346
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln) rs1566606055
NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu) rs1594771270
NM_001130004.2(ACTN1):c.982G>A (p.Val328Met) rs1594771236
NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg) rs1594771224

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