ClinVar Miner

List of variants reported as likely pathogenic for Macrothrombocytopenia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) rs1597638745
NM_000173.7(GP1BA):c.98G>C (p.Cys33Ser) rs1597638300
NM_000212.2(ITGB3):c.2015-29_2134+24del rs1598700249
NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.4(GP1BB):c.395T>A (p.Leu132Gln) rs1601248859
NM_000407.4(GP1BB):c.448del (p.Ala150fs) rs1360071443
NM_000407.4(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.4(GP1BB):c.555_556insA (p.Ala186fs) rs1254692009
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561
NM_000407.5(GP1BB):c.203C>T (p.Thr68Met) rs1601248530
NM_000407.5(GP1BB):c.3G>C (p.Met1Ile) rs1601247763
NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del) rs1601248245
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_001102.4(ACTN1):c.1019C>T (p.Thr340Met) rs1594771155
NM_001102.4(ACTN1):c.1640T>C (p.Leu547Pro) rs1594756590
NM_001102.4(ACTN1):c.1770C>A (p.Asn590Lys) rs867564562
NM_001102.4(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
NM_001102.4(ACTN1):c.2212C>T (p.Arg738Trp) rs387907349
NM_001102.4(ACTN1):c.313G>A (p.Val105Ile) rs387907345
NM_002049.3(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_005219.5(DIAPH1):c.3575-50_3661+36inv
NM_030773.3(TUBB1):c.1194del (p.Trp397_Tyr398insTer) rs1601239696
NM_030773.3(TUBB1):c.229C>T (p.Arg77Ter) rs767380935
NM_030773.3(TUBB1):c.952C>T (p.Arg318Trp) rs121918555
NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys) rs1601238563
NM_030773.4(TUBB1):c.704del (p.Gly235fs) rs770554119

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.