ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 15

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.