ClinVar Miner

List of variants studied for Thrombocytopenia 2

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ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_014915.3(ANKRD26):c.59A>G (p.Gln20Arg) rs7897309 0.90376
NM_014915.3(ANKRD26):c.709+91T>A rs10443987 0.84653
NM_014915.3(ANKRD26):c.2376-16A>G rs7096505 0.83535
NM_014915.3(ANKRD26):c.741-36T>G rs3737055 0.56600
NM_014915.3(ANKRD26):c.531+38A>G rs2297147 0.49602
NM_014915.3(ANKRD26):c.740+85A>G rs10829174 0.49591
NM_014915.3(ANKRD26):c.624A>G (p.Val208=) rs2297145 0.23613
NM_014915.3(ANKRD26):c.3913G>A (p.Val1305Ile) rs10829163 0.20000
NM_014915.3(ANKRD26):c.4542T>A (p.Phe1514Leu) rs2274741 0.19016
NM_014915.3(ANKRD26):c.357+28C>G rs2297150 0.14450
NM_014915.3(ANKRD26):c.358-77C>T rs2297149 0.13109
NM_014915.3(ANKRD26):c.531+42G>A rs2297146 0.12862
NM_014915.3(ANKRD26):c.709+100G>C rs10443967 0.10454
NM_014915.3(ANKRD26):c.*1175C>T rs10829158 0.10152
NM_014915.3(ANKRD26):c.3972+3A>G rs72807627 0.09308
NM_014915.3(ANKRD26):c.*68_*69del rs3215884 0.09285
NM_014915.3(ANKRD26):c.*1120A>G rs35446173 0.08865
NM_014915.3(ANKRD26):c.*1212G>A rs66931439 0.08861
NM_014915.3(ANKRD26):c.1463-93G>A rs11015495 0.08042
NM_014915.3(ANKRD26):c.-59G>A rs3737056 0.07960
NM_014915.3(ANKRD26):c.358-68G>A rs2297148 0.07815
NM_014915.3(ANKRD26):c.-140C>G rs41299222 0.05835
NM_014915.3(ANKRD26):c.2697+58A>G rs41279940 0.04593
NM_014915.3(ANKRD26):c.1273A>G (p.Ile425Val) rs12359281 0.04203
NM_014915.3(ANKRD26):c.1207+15A>G rs115864032 0.03406
NM_014915.3(ANKRD26):c.1868G>A (p.Arg623Gln) rs28477279 0.02553
NM_014915.3(ANKRD26):c.2978A>C (p.Glu993Ala) rs61745662 0.02396
NM_014915.3(ANKRD26):c.2376-4G>A rs75445709 0.02272
NM_014915.3(ANKRD26):c.793G>A (p.Asp265Asn) rs61730101 0.01738
NM_014915.3(ANKRD26):c.1564+6T>C rs149655759 0.01710
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01471
NM_014915.3(ANKRD26):c.1269+11_1269+12del rs375101238 0.01366
NM_014915.3(ANKRD26):c.576G>A (p.Gln192=) rs41279942 0.01351
NM_014915.3(ANKRD26):c.*1433A>G rs12570065 0.01312
NM_014915.3(ANKRD26):c.*904C>A rs11015449 0.01310
NM_014915.3(ANKRD26):c.2071T>C (p.Ser691Pro) rs73596345 0.01174
NM_014915.3(ANKRD26):c.3658G>C (p.Val1220Leu) rs12572862 0.01072
NM_014915.3(ANKRD26):c.332A>G (p.Asn111Ser) rs79092403 0.00812
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_014915.3(ANKRD26):c.2974C>T (p.Leu992=) rs3824692 0.00658
NM_014915.2(ANKRD26):c.-184G>T rs527666933 0.00490
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) rs138288481 0.00338
NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu) rs74128547 0.00260
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln) rs139949439 0.00251
NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu) rs56151272 0.00248
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_014915.3(ANKRD26):c.531+10A>T rs114367485 0.00212
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser) rs201068693 0.00192
NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala) rs199849785 0.00190
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly) rs186243874 0.00188
NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr) rs146159734 0.00166
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) rs141748831 0.00136
NM_014915.3(ANKRD26):c.*1012C>A rs540664871 0.00094
NM_014915.3(ANKRD26):c.3655-4T>C rs200124932 0.00092
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile) rs191015656 0.00090
NM_014915.3(ANKRD26):c.1806G>A (p.Glu602=) rs187923892 0.00086
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala) rs201461870 0.00085
NM_014915.3(ANKRD26):c.4145T>A (p.Phe1382Tyr) rs78251061 0.00052
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) rs149647444 0.00048
NM_014915.3(ANKRD26):c.4188T>C (p.Asp1396=) rs199589035 0.00044
NM_014915.3(ANKRD26):c.425C>T (p.Ala142Val) rs768779673 0.00041
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser) rs201638257 0.00035
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) rs193178384 0.00033
NM_014915.3(ANKRD26):c.*566G>A rs149300287 0.00029
NM_014915.3(ANKRD26):c.2697+9A>G rs370796881 0.00029
NM_014915.3(ANKRD26):c.2421G>A (p.Thr807=) rs184702576 0.00026
NM_014915.3(ANKRD26):c.531+9C>G rs142574680 0.00026
NM_014915.3(ANKRD26):c.2232T>A (p.Asn744Lys) rs368921201 0.00024
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly) rs368705077 0.00024
NM_014915.3(ANKRD26):c.874+8G>T rs377114195 0.00023
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile) rs199683454 0.00020
NM_014915.3(ANKRD26):c.1327G>A (p.Gly443Arg) rs199787000 0.00017
NM_014915.3(ANKRD26):c.2053G>A (p.Asp685Asn) rs368408857 0.00017
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_014915.3(ANKRD26):c.101C>T (p.Ala34Val) rs368560982 0.00014
NM_014915.3(ANKRD26):c.4879C>T (p.Pro1627Ser) rs572143624 0.00014
NM_014915.3(ANKRD26):c.648A>G (p.Gln216=) rs377535525 0.00013
NM_014915.3(ANKRD26):c.3808-15T>A rs767613987 0.00012
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp) rs368602859 0.00010
NM_014915.3(ANKRD26):c.2559+10T>A rs768668962 0.00009
NM_014915.3(ANKRD26):c.5060A>T (p.Asn1687Ile) rs373138646 0.00009
NM_014915.3(ANKRD26):c.*482A>C rs760890734 0.00008
NM_014915.3(ANKRD26):c.4391A>C (p.His1464Pro) rs762858115 0.00008
NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp) rs367849518 0.00007
NC_000010.11:g.27100498T>A rs886046951 0.00006
NM_014915.3(ANKRD26):c.1213A>G (p.Met405Val) rs555822164 0.00006
NM_014915.3(ANKRD26):c.1756A>G (p.Lys586Glu) rs377530499 0.00006
NM_014915.3(ANKRD26):c.2210G>T (p.Arg737Ile) rs201688627 0.00006
NM_014915.3(ANKRD26):c.2260A>T (p.Lys754Ter) rs767240266 0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410 0.00006
NM_014915.3(ANKRD26):c.1166A>G (p.Asn389Ser) rs372397062 0.00005
NM_014915.3(ANKRD26):c.269A>G (p.Asn90Ser) rs752629436 0.00005
NM_014915.3(ANKRD26):c.4249G>C (p.Gly1417Arg) rs764763153 0.00005
NM_014915.3(ANKRD26):c.4725-15C>T rs373529426 0.00005
NM_014915.3(ANKRD26):c.756G>A (p.Pro252=) rs201128867 0.00005
NM_014915.3(ANKRD26):c.-135A>C rs373811579 0.00004
NM_014915.3(ANKRD26):c.1565-4T>C rs747570982 0.00004
NM_014915.3(ANKRD26):c.4078A>G (p.Ile1360Val) rs755787377 0.00004
NM_014915.3(ANKRD26):c.4497A>G (p.Leu1499=) rs558881577 0.00004
NM_014915.3(ANKRD26):c.4725-10A>G rs369868995 0.00004
NM_014915.3(ANKRD26):c.826C>T (p.Pro276Ser) rs758179353 0.00004
NM_014915.3(ANKRD26):c.*170G>A rs377417678 0.00003
NM_014915.3(ANKRD26):c.3044C>T (p.Ala1015Val) rs758480659 0.00003
NM_014915.3(ANKRD26):c.4684G>A (p.Glu1562Lys) rs200392387 0.00003
NM_014915.3(ANKRD26):c.5086G>A (p.Ala1696Thr) rs370943966 0.00003
NM_014915.3(ANKRD26):c.739A>T (p.Arg247Trp) rs765170468 0.00003
NM_001172303.3(MASTL):c.501G>C (p.Glu167Asp) rs28941470 0.00002
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter) rs780613456 0.00002
NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala) rs375318218 0.00002
NM_014915.3(ANKRD26):c.1219G>A (p.Ala407Thr) rs200982037 0.00002
NM_014915.3(ANKRD26):c.1364A>G (p.Asp455Gly) rs199857139 0.00002
NM_014915.3(ANKRD26):c.1537A>G (p.Met513Val) rs770459954 0.00002
NM_014915.3(ANKRD26):c.1858A>G (p.Lys620Glu) rs112661579 0.00002
NM_014915.3(ANKRD26):c.3704A>T (p.Gln1235Leu) rs765506121 0.00002
NM_014915.3(ANKRD26):c.452A>C (p.His151Pro) rs752031374 0.00002
NM_014915.3(ANKRD26):c.*1243A>G rs1264848589 0.00001
NM_014915.3(ANKRD26):c.*1351G>T rs1355694401 0.00001
NM_014915.3(ANKRD26):c.*530C>G rs886046941 0.00001
NM_014915.3(ANKRD26):c.*69T>C rs200102083 0.00001
NM_014915.3(ANKRD26):c.*704C>G rs886046940 0.00001
NM_014915.3(ANKRD26):c.*8G>T rs886046943 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_014915.3(ANKRD26):c.-138C>G rs886046950 0.00001
NM_014915.3(ANKRD26):c.-4G>A rs779013762 0.00001
NM_014915.3(ANKRD26):c.1176T>C (p.Tyr392=) rs368451975 0.00001
NM_014915.3(ANKRD26):c.1210A>G (p.Met404Val) rs751538106 0.00001
NM_014915.3(ANKRD26):c.1439T>C (p.Val480Ala) rs886046947 0.00001
NM_014915.3(ANKRD26):c.1492-6A>G rs946903113 0.00001
NM_014915.3(ANKRD26):c.1495A>G (p.Thr499Ala) rs370398342 0.00001
NM_014915.3(ANKRD26):c.162C>T (p.Ala54=) rs761866364 0.00001
NM_014915.3(ANKRD26):c.1636-8del rs2054556291 0.00001
NM_014915.3(ANKRD26):c.1754G>C (p.Arg585Thr) rs1293742057 0.00001
NM_014915.3(ANKRD26):c.2356C>T (p.Arg786Ter) rs189856879 0.00001
NM_014915.3(ANKRD26):c.2392G>T (p.Glu798Ter) rs560561829 0.00001
NM_014915.3(ANKRD26):c.244A>G (p.Thr82Ala) rs2056378213 0.00001
NM_014915.3(ANKRD26):c.245C>T (p.Thr82Met) rs373943537 0.00001
NM_014915.3(ANKRD26):c.2642A>G (p.Asn881Ser) rs926871139 0.00001
NM_014915.3(ANKRD26):c.2787C>T (p.Asp929=) rs370940054 0.00001
NM_014915.3(ANKRD26):c.3367A>G (p.Asn1123Asp) rs746125031 0.00001
NM_014915.3(ANKRD26):c.3439C>T (p.Arg1147Ter) rs151033255 0.00001
NM_014915.3(ANKRD26):c.4006A>G (p.Met1336Val) rs777101648 0.00001
NM_014915.3(ANKRD26):c.426G>A (p.Ala142=) rs746957045 0.00001
NM_014915.3(ANKRD26):c.4271A>T (p.Asp1424Val) rs560228865 0.00001
NM_014915.3(ANKRD26):c.93G>A (p.Gly31=) rs746535031 0.00001
NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) rs535159862
NM_014915.3(ANKRD26):c.*1029G>A rs1045894805
NM_014915.3(ANKRD26):c.*1169C>T rs1589194013
NM_014915.3(ANKRD26):c.*1170G>A rs886046939
NM_014915.3(ANKRD26):c.*1174C>G rs886046938
NM_014915.3(ANKRD26):c.*142G>A rs886046942
NM_014915.3(ANKRD26):c.*566G>T rs149300287
NM_014915.3(ANKRD26):c.*595G>A rs374615840
NM_014915.3(ANKRD26):c.-107C>T rs910801961
NM_014915.3(ANKRD26):c.-116C>G rs1589393739
NM_014915.3(ANKRD26):c.-116C>T rs1589393739
NM_014915.3(ANKRD26):c.-118C>G rs1589393759
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_014915.3(ANKRD26):c.-119C>G rs1554800065
NM_014915.3(ANKRD26):c.-125T>G rs1589393785
NM_014915.3(ANKRD26):c.-126T>G rs1589393792
NM_014915.3(ANKRD26):c.-127A>G rs1589393799
NM_014915.3(ANKRD26):c.-127A>T rs1589393799
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_014915.3(ANKRD26):c.-128G>C rs1589393809
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_014915.3(ANKRD26):c.-138C>A rs886046950
NM_014915.3(ANKRD26):c.-51T>A rs762195334
NM_014915.3(ANKRD26):c.-77C>G rs546768605
NM_014915.3(ANKRD26):c.1269+7T>A rs201014646
NM_014915.3(ANKRD26):c.1269+7_1269+12delinsA rs386742210
NM_014915.3(ANKRD26):c.1269+7_1269+9del rs200015812
NM_014915.3(ANKRD26):c.1364-5C>A rs1049457907
NM_014915.3(ANKRD26):c.141C>A (p.Leu47=) rs373157833
NM_014915.3(ANKRD26):c.1462+17C>A rs11015496
NM_014915.3(ANKRD26):c.1492-11A>G
NM_014915.3(ANKRD26):c.1501G>A (p.Glu501Lys) rs1397484113
NM_014915.3(ANKRD26):c.1571A>G (p.His524Arg) rs199656285
NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del) rs138423863
NM_014915.3(ANKRD26):c.1721ATG[7] (p.Asp579_Gly580insAsp) rs561705414
NM_014915.3(ANKRD26):c.1787C>T (p.Pro596Leu) rs2054550014
NM_014915.3(ANKRD26):c.1985+19T>G
NM_014915.3(ANKRD26):c.1986-3del rs113123391
NM_014915.3(ANKRD26):c.1986-3dup rs113123391
NM_014915.3(ANKRD26):c.2125A>T (p.Met709Leu)
NM_014915.3(ANKRD26):c.21G>T (p.Lys7Asn)
NM_014915.3(ANKRD26):c.2329_2332del (p.Leu777fs) rs778333097
NM_014915.3(ANKRD26):c.2405_2409del (p.Arg802fs) rs755734556
NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter) rs1589257502
NM_014915.3(ANKRD26):c.2555A>G (p.Asn852Ser)
NM_014915.3(ANKRD26):c.2857A>G (p.Asn953Asp) rs778133635
NM_014915.3(ANKRD26):c.2994C>A (p.Ser998Arg)
NM_014915.3(ANKRD26):c.3053A>G (p.His1018Arg) rs2054011229
NM_014915.3(ANKRD26):c.317T>G (p.Leu106Arg) rs2539291620
NM_014915.3(ANKRD26):c.319A>G (p.Asn107Asp) rs777897967
NM_014915.3(ANKRD26):c.320A>G (p.Asn107Ser) rs756157730
NM_014915.3(ANKRD26):c.3216A>G (p.Lys1072=) rs1010361619
NM_014915.3(ANKRD26):c.3218T>C (p.Leu1073Pro) rs2054004758
NM_014915.3(ANKRD26):c.3589A>C (p.Ile1197Leu) rs1394351114
NM_014915.3(ANKRD26):c.3686C>T (p.Ala1229Val) rs1386447841
NM_014915.3(ANKRD26):c.3692C>G (p.Thr1231Ser) rs751964173
NM_014915.3(ANKRD26):c.3710T>C (p.Met1237Thr) rs760695730
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu) rs200100926
NM_014915.3(ANKRD26):c.3765G>C (p.Glu1255Asp)
NM_014915.3(ANKRD26):c.3808-15dup rs368301579
NM_014915.3(ANKRD26):c.3841G>A (p.Val1281Ile) rs2538699975
NM_014915.3(ANKRD26):c.3896C>A (p.Ala1299Asp) rs1429452589
NM_014915.3(ANKRD26):c.3940G>A (p.Glu1314Lys) rs886046945
NM_014915.3(ANKRD26):c.3965C>A (p.Ala1322Glu)
NM_014915.3(ANKRD26):c.4155T>A (p.His1385Gln) rs931726728
NM_014915.3(ANKRD26):c.418A>G (p.Asn140Asp)
NM_014915.3(ANKRD26):c.4284A>C (p.Gln1428His) rs771059446
NM_014915.3(ANKRD26):c.4570A>G (p.Ser1524Gly) rs2053229860
NM_014915.3(ANKRD26):c.4595A>G (p.Asp1532Gly) rs2053228815
NM_014915.3(ANKRD26):c.475A>T (p.Ile159Leu) rs201548038
NM_014915.3(ANKRD26):c.4808C>G (p.Thr1603Ser) rs886046944
NM_014915.3(ANKRD26):c.4995_4998del (p.Glu1666fs) rs1564348376
NM_014915.3(ANKRD26):c.506del (p.Asp169fs) rs750685262
NM_014915.3(ANKRD26):c.5099_5100del (p.Tyr1700fs) rs764263085
NM_014915.3(ANKRD26):c.50C>T (p.Ala17Val) rs886046948
NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs) rs2052846280
NM_014915.3(ANKRD26):c.5107G>A (p.Val1703Ile) rs1330485324
NM_014915.3(ANKRD26):c.531+41C>T rs56325123
NM_014915.3(ANKRD26):c.556G>T (p.Ala186Ser) rs767744358
NM_014915.3(ANKRD26):c.565G>A (p.Gly189Arg) rs2056331522
NM_014915.3(ANKRD26):c.5AGA[1] (p.Lys3del)
NM_014915.3(ANKRD26):c.789C>G (p.Asp263Glu) rs777702991
NM_014915.3(ANKRD26):c.821C>G (p.Pro274Arg) rs1589347239
NM_014915.3(ANKRD26):c.862T>C (p.Ser288Pro)
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn) rs61730102
NM_014915.3(ANKRD26):c.948T>C (p.Asp316=) rs569751156

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