ClinVar Miner

List of variants reported as uncertain significance for acute disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_018006.4(TRMU):c.-147C>A rs190351151 0.00097
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu) rs146550489 0.00063
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_001349206.2(LPIN1):c.1893G>T (p.Lys631Asn) rs145608684 0.00026
NM_003265.3(TLR3):c.176C>A (p.Thr59Asn) rs143307508 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) rs149578420 0.00018
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) rs377029115 0.00014
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) rs375109382 0.00013
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr) rs150673063 0.00013
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_001349206.2(LPIN1):c.1271G>A (p.Arg424Gln) rs115521500 0.00010
NM_000098.2(CPT2):c.-282C>T rs886046402 0.00009
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly) rs771205777 0.00008
NM_001349206.2(LPIN1):c.1982A>G (p.Lys661Arg) rs768074360 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_001349206.2(LPIN1):c.1651A>T (p.Asn551Tyr) rs751535374 0.00006
NM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met) rs149307854 0.00006
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197 0.00005
NM_001349206.2(LPIN1):c.1862C>T (p.Pro621Leu) rs144102076 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala) rs200399018 0.00004
NM_000098.3(CPT2):c.379G>A (p.Val127Ile) rs199545795 0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn) rs1057287341 0.00004
NM_000222.3(KIT):c.2104C>G (p.Leu702Val) rs768847037 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_001349206.2(LPIN1):c.1110C>A (p.Asn370Lys) rs774861372 0.00004
NM_001349206.2(LPIN1):c.1475A>G (p.Asp492Gly) rs190743128 0.00004
NM_001349206.2(LPIN1):c.723-2A>C rs368632476 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_145725.3(TRAF3):c.139G>A (p.Val47Met) rs755721963 0.00004
NM_145725.3(TRAF3):c.563C>T (p.Ala188Val) rs763088249 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.611C>T (p.Ala204Val) rs867555821 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) rs761810461 0.00003
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_001349206.2(LPIN1):c.2777C>T (p.Ala926Val) rs143650210 0.00003
NM_001349206.2(LPIN1):c.541A>G (p.Met181Val) rs200284114 0.00003
NM_001349206.2(LPIN1):c.616C>G (p.Pro206Ala) rs370440936 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326 0.00003
NM_006267.5(RANBP2):c.8369T>A (p.Phe2790Tyr) rs142150663 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_182919.4(TICAM1):c.935A>G (p.Gln312Arg) rs763590950 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu) rs767530116 0.00002
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000222.3(KIT):c.2057G>A (p.Arg686His) rs143772138 0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter) rs139000082 0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp) rs587778433 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_001349206.2(LPIN1):c.1208C>G (p.Pro403Arg) rs185471985 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_000098.3(CPT2):c.1124G>T (p.Gly375Val) rs772843417 0.00001
NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr) rs515726176 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg) rs1220461521 0.00001
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) rs756414686 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp) rs1352360897 0.00001
NM_000098.3(CPT2):c.626C>T (p.Ala209Val) rs773788921 0.00001
NM_000098.3(CPT2):c.656G>A (p.Arg219Gln) rs920941550 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000098.3(CPT2):c.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu) rs569408054 0.00001
NM_000222.3(KIT):c.2863G>T (p.Val955Leu) rs1060502568 0.00001
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys) rs1232060384 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_001349206.2(LPIN1):c.1121C>T (p.Thr374Ile) rs141438400 0.00001
NM_001349206.2(LPIN1):c.1979A>G (p.Tyr660Cys) rs780262395 0.00001
NM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly) rs987368907 0.00001
NM_001349206.2(LPIN1):c.2621C>T (p.Ser874Leu) rs780273443 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.135T>A (p.His45Gln) rs770618624 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.361G>C (p.Asp121His) rs777916019 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr) rs992811256
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys) rs766154734
NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg) rs1553170037
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.416C>G (p.Pro139Arg) rs369475478
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.3(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_001349206.2(LPIN1):c.110G>A (p.Arg37His) rs774490262
NM_001349206.2(LPIN1):c.1542C>G (p.Ile514Met) rs1340968307
NM_001349206.2(LPIN1):c.2066C>T (p.Thr689Met) rs1364674031
NM_001349206.2(LPIN1):c.928C>G (p.Leu310Val) rs757007907
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.697A>C (p.Lys233Gln) rs1554564205
NM_002485.5(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg) rs1967183728
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) rs867113214
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_006267.5(RANBP2):c.5570A>G (p.Gln1857Arg) rs2149279328
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_030930.4(UNC93B1):c.1557_1561del (p.Val522fs) rs1010114944
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479

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