ClinVar Miner

List of variants reported as uncertain significance for hematologic disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile) rs111642750 0.02894
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NC_000012.12:g.6867505T>G rs1800202 0.00329
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr) rs113768282 0.00268
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_001243177.4(ALDOA):c.274+4C>T rs200278984 0.00204
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NC_000012.12:g.6867486C>T rs781949460 0.00200
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NC_000019.10:g.34364916G>A rs549433538 0.00139
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val) rs143086237 0.00130
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys) rs140014115 0.00123
NM_001114134.2(EPB42):c.10+79G>A rs149249456 0.00119
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr) rs45495503 0.00107
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His) rs150657573 0.00076
NM_001114134.2(EPB42):c.10+60C>T rs144428415 0.00070
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr) rs201599639 0.00055
NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg) rs201079951 0.00055
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser) rs148871144 0.00048
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00044
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg) rs141408004 0.00043
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00042
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp) rs113948846 0.00019
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00018
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_152866.3(MS4A1):c.194C>T (p.Ala65Val) rs146626926 0.00013
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val) rs555199291 0.00011
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys) rs201227668 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_000132.4(F8):c.1666G>A (p.Val556Ile) rs372867215 0.00009
NM_000132.4(F8):c.6696A>G (p.Gln2232=) rs201870876 0.00009
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met) rs115972761 0.00008
NM_003200.5(TCF3):c.23C>T (p.Ala8Val) rs376780559 0.00008
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile) rs376601712 0.00006
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000637.5(GSR):c.1334C>T (p.Thr445Met) rs778165636 0.00006
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met) rs370932461 0.00006
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 0.00006
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro) rs138385624 0.00006
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_000037.4(ANK1):c.1800+3A>T rs559020131 0.00004
NM_000132.4(F8):c.4045A>G (p.Arg1349Gly) rs937701134 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn) rs374417752 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln) rs201952060 0.00004
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val) rs373153188 0.00004
NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) rs777970142 0.00003
NM_000037.4(ANK1):c.639G>A (p.Ala213=) rs766500460 0.00003
NM_000132.4(F8):c.5950G>C (p.Val1984Leu) rs782504844 0.00003
NM_000175.5(GPI):c.-9A>G rs552574934 0.00003
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser) rs770414676 0.00003
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) rs139513895 0.00002
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr) rs780736989 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys) rs115660852 0.00002
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NC_000012.12:g.48107374A>G rs755094329 0.00001
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) rs779654741 0.00001
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys) rs770345014 0.00001
NM_000037.4(ANK1):c.5395-1080C>T rs143349452 0.00001
NM_000037.4(ANK1):c.5395-1157A>T rs1204104038 0.00001
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) rs886062942 0.00001
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) rs760321571 0.00001
NM_000132.4(F8):c.1231G>A (p.Asp411Asn) rs1324147584 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.2243A>G (p.Tyr748Cys) rs1160871723 0.00001
NM_000132.4(F8):c.6323C>T (p.Ala2108Val) rs782094982 0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000476.3(AK1):c.90G>T (p.Gln30His) rs141933637 0.00001
NM_000637.5(GSR):c.307G>A (p.Val103Met) rs745404470 0.00001
NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr) rs1190513717 0.00001
NM_001114134.2(EPB42):c.890G>T (p.Gly297Val) rs1292537932 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001375808.2(LPIN2):c.1144G>A (p.Val382Ile) rs1486044509 0.00001
NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu) rs1467998402 0.00001
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr) rs200426834 0.00001
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) rs1302220038 0.00001
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu) rs762213305 0.00001
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly) rs754903343
NM_000037.4(ANK1):c.1998+5G>A rs946534987
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) rs1823867456
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) rs776018872
NM_000037.4(ANK1):c.2637G>A (p.Gln879=)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.2810T>C (p.Val937Ala) rs1586181590
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) rs1820556702
NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) rs1820329178
NM_000037.4(ANK1):c.327G>A (p.Gln109=)
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) rs1586505238
NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) rs2150661855
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) rs1819636555
NM_000037.4(ANK1):c.3858+4A>G
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) rs770333748
NM_000037.4(ANK1):c.830A>C (p.His277Pro) rs1829714663
NM_000037.4(ANK1):c.931A>G (p.Met311Val) rs2150644664
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) rs1036457270
NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)
NM_000132.4(F8):c.1010-9T>A rs1603435287
NM_000132.4(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.4(F8):c.1652A>G (p.Tyr551Cys) rs2073368605
NM_000132.4(F8):c.2618G>A (p.Gly873Asp) rs2073195544
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.5576A>T (p.Asp1859Val) rs2123997719
NM_000132.4(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.65G>A (p.Arg22Lys) rs2073765087
NM_000132.4(F8):c.89A>G (p.Glu30Gly) rs137852378
NM_000132.4(F8):c.940A>C (p.Thr314Pro) rs137852406
NM_000132.4(F8):c.944C>G (p.Ala315Gly) rs2124109874
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
NM_000365.6(TPI1):c.-29C>G rs181882616
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr) rs199881593
NM_000476.3(AK1):c.238A>G (p.Met80Val)
NM_000476.3(AK1):c.530G>T (p.Gly177Val) rs201453879
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
NM_000559.3(HBG1):c.14C>G (p.Thr5Arg) rs2133609307
NM_000637.5(GSR):c.227_253dup (p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla)
NM_000637.5(GSR):c.512G>T (p.Arg171Leu) rs766106295
NM_000637.5(GSR):c.698G>A (p.Arg233His) rs750234827
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His) rs2127993476
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) rs1583891936
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp) rs116484797
NM_001114134.2(EPB42):c.1345G>C (p.Glu449Gln)
NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)
NM_001114134.2(EPB42):c.971+8G>A
NM_001114134.2(EPB42):c.971+9C>A
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)
NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile) rs765953887
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val) rs2096603473
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)
NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)
NM_001430.5(EPAS1):c.1620C>A (p.Phe540Leu)
NM_001724.5(BPGM):c.62G>A (p.Arg21His)
NM_001783.4(CD79A):c.576C>A (p.Asn192Lys)
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp) rs748862062
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp) rs746216798
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn) rs2140513573
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu) rs756449578
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)
NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842

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