ClinVar Miner

List of variants reported for Macrothrombocytopenia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_001130004.2(ACTN1):c.2587-26C>T rs752352598 0.00018
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561 0.00003
NM_030773.4(TUBB1):c.554C>T (p.Ala185Val) rs146846923 0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg) rs374928728 0.00002
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg) rs371852125 0.00002
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) rs121918037 0.00001
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro) rs750315624 0.00001
NM_000407.5(GP1BB):c.555_556insA (p.Ala186fs) rs1254692009 0.00001
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740 0.00001
NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys) rs387907350 0.00001
NC_000022.11:g.19721912_19724790del
NM_000173.7(GP1BA):c.148_149del (p.Thr50fs) rs1597638379
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg) rs1597638430
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_000212.3(ITGB3):c.1447T>C (p.Cys483Arg) rs1598694712
NM_000212.3(ITGB3):c.2015-29_2134+24del rs1598700249
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.5(GP1BB):c.203C>T (p.Thr68Met) rs1601248530
NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg) rs1464643023
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln) rs1601248859
NM_000407.5(GP1BB):c.3G>C (p.Met1Ile) rs1601247763
NM_000407.5(GP1BB):c.448del (p.Ala150fs) rs1360071443
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del) rs1601248245
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg) rs1598375569
NM_000460.4(THPO):c.610dup (p.Glu204fs) rs776536238
NM_000460.4(THPO):c.805dup (p.Leu269fs) rs1577354471
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met) rs1594771155
NM_001130004.2(ACTN1):c.1027A>T (p.Thr343Ser) rs1594771139
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg) rs1594768482
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) rs1454176065
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.1640T>C (p.Leu547Pro) rs1594756590
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys) rs867564562
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
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.299T>C (p.Ile100Thr) rs1594816590
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) rs387907345
NM_001130004.2(ACTN1):c.650A>G (p.Asp217Gly) rs1594790030
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg) rs1594773549
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002049.4(GATA1):c.824G>C (p.Gly275Ala) rs1602220740
NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu) rs1603484050
NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn) rs777484384
NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala) rs1603482879
NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln) rs566978904
NM_005219.5(DIAPH1):c.3575-50_3661+36inv
NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys) rs1421750582
NM_030773.4(TUBB1):c.1194del (p.Trp397_Tyr398insTer) rs1601239696
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter) rs767380935
NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys) rs1601238563
NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg) rs778975827
NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu) rs1601238822
NM_030773.4(TUBB1):c.704del (p.Gly235fs) rs770554119
NM_030773.4(TUBB1):c.752G>A (p.Arg251His) rs770226644
NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp) rs1601239213

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