ClinVar Miner

List of variants studied for hematologic disorder by Birmingham Platelet Group; University of Birmingham

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001385012.1(NBEA):c.-161C>T rs924269207 0.00176
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile) rs145280665 0.00137
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_000930.5(PLAT):c.1481G>C (p.Gly494Ala) rs61755432 0.00107
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr) rs200459002 0.00091
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His) rs200622688 0.00088
NM_000930.5(PLAT):c.928C>T (p.Arg310Cys) rs151006962 0.00087
NM_000412.5(HRG):c.1379G>A (p.Arg460Gln) rs148716747 0.00086
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000892.5(KLKB1):c.772C>T (p.Leu258Phe) rs146650319 0.00061
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln) rs140354422 0.00061
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) rs200663004 0.00044
NM_001129820.2(SLFN14):c.916G>C (p.Asp306His) rs373500415 0.00041
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_005577.4(LPA):c.5081C>G (p.Ser1694Ter) rs41267811 0.00016
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_022788.5(P2RY12):c.365G>A (p.Arg122His) rs778790805 0.00014
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met) rs183119284 0.00011
NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp) rs368923302 0.00011
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000504.4(F10):c.1222G>A (p.Asp408Asn) rs369409423 0.00010
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) rs200135215 0.00008
NM_000552.5(VWF):c.6424C>T (p.Leu2142Phe) rs190741083 0.00006
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp) rs768296460 0.00006
NM_004991.4(MECOM):c.951G>T (p.Lys317Asn) rs373255348 0.00005
NM_030773.4(TUBB1):c.68T>C (p.Met23Thr) rs374942824 0.00005
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_004991.4(MECOM):c.580T>G (p.Tyr194Asp) rs745797691 0.00004
NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met) rs373495718 0.00004
NM_000361.3(THBD):c.716C>T (p.Ala239Val) rs886056547 0.00003
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala) rs2056451534 0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile) rs775313250 0.00003
NM_139279.6(MCFD2):c.416C>T (p.Ala139Val) rs80294301 0.00003
NM_001261826.3(AP3D1):c.1246G>A (p.Glu416Lys) rs772939299 0.00002
NM_016180.5(SLC45A2):c.1471G>A (p.Gly491Arg) rs779983065 0.00002
NM_019616.4(F7):c.791C>T (p.Ala264Val) rs760341993 0.00002
NM_000093.5(COL5A1):c.2146G>A (p.Glu716Lys) rs750450695 0.00001
NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser) rs750203146 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp) rs777748046 0.00001
NM_000361.3(THBD):c.407T>G (p.Leu136Trp) rs550522588 0.00001
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000821.7(GGCX):c.2012G>A (p.Arg671His) rs1350379349 0.00001
NM_001098671.2(RASGRP2):c.281C>T (p.Pro94Leu) rs186484036 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003290.3(TPM4):c.440C>T (p.Ala147Val) rs1229151800 0.00001
NM_005523.6(HOXA11):c.248A>G (p.Tyr83Cys) rs778467438 0.00001
NM_005720.4(ARPC1B):c.308G>A (p.Arg103His) rs11556758 0.00001
NM_018668.5(VPS33B):c.434T>C (p.Leu145Ser) rs778351669 0.00001
NM_022436.3(ABCG5):c.692T>C (p.Ile231Thr) rs778172526 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_030773.4(TUBB1):c.4C>T (p.Arg2Cys) rs754294863 0.00001
NM_138272.3(MPIG6B):c.132G>C (p.Trp44Cys) rs1483726517 0.00001
NM_139027.6(ADAMTS13):c.3400+175T>G rs782563004 0.00001
NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln) rs779287554
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000093.5(COL5A1):c.1715C>A (p.Pro572His) rs1835824786
NM_000093.5(COL5A1):c.5411C>A (p.Thr1804Asn) rs755260686
NM_000132.4(F8):c.5441A>T (p.Asp1814Val) rs2073030462
NM_000157.4(GBA1):c.26_27del (p.Glu9fs) rs766291162
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1277_1313del (p.Pro426fs) rs774477655
NM_000173.7(GP1BA):c.413G>T (p.Gly138Val) rs1970365829
NM_000361.3(THBD):c.1611C>A (p.Cys537Ter) rs1600409143
NM_000361.3(THBD):c.752G>A (p.Gly251Asp) rs1287823727
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000419.5(ITGA2B):c.2176A>T (p.Lys726Ter) rs2048557402
NM_000460.4(THPO):c.610dup (p.Glu204fs) rs776536238
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) rs1233330150
NM_000504.4(F10):c.1406G>A (p.Arg469Lys) rs771971250
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000821.7(GGCX):c.1217G>A (p.Arg406His) rs139574592
NM_001098671.2(RASGRP2):c.1159C>T (p.Arg387Cys) rs746056618
NM_001129820.2(SLFN14):c.1481A>G (p.Gln494Arg) rs2072613042
NM_001129820.2(SLFN14):c.2686T>C (p.Ser896Pro) rs2072550081
NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs) rs2072671208
NM_001129820.2(SLFN14):c.859A>G (p.Lys287Glu) rs2072659987
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg) rs192640536
NM_001377304.1(GFI1B):c.814+1G>A rs1849228141
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly) rs2056452215
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) rs2057998110
NM_001754.5(RUNX1):c.351+1G>T rs1060502579
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser) rs1186716957
NM_001754.5(RUNX1):c.508+1G>T rs1601515718
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.98-1G>A rs2058006300
NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter) rs1437274494
NM_001987.5(ETV6):c.313C>T (p.Arg105Ter) rs1946357179
NM_002017.5(FLI1):c.992_995del (p.Asn331fs) rs1064797085
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_003891.3(PROZ):c.647C>T (p.Thr216Ile) rs200554916
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA rs771084683
NM_005359.6(SMAD4):c.904+3A>G rs1326688620
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_015175.3(NBEAL2):c.6801+1G>C rs1285731171
NM_018947.6(CYCS):c.155C>T (p.Ala52Val) rs1783401850
NM_024747.6(HPS6):c.256_264dup (p.Trp86_Ala88dup) rs1208203730
NM_030773.4(TUBB1):c.1080dup (p.Leu361fs) rs1300096139
NM_032383.5(HPS3):c.479G>A (p.Ser160Asn) rs979740599
NM_138272.3(MPIG6B):c.621G>T (p.Pro207=) rs147600887
NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter) rs748223519
NM_139279.6(MCFD2):c.364G>A (p.Asp122Asn) rs1668185105

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