ClinVar Miner

List of variants studied for acute myeloid leukemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_002520.7(NPM1):c.847-5T>C rs191111314 0.01680
NM_002520.7(NPM1):c.543T>C (p.Phe181=) rs61755048 0.00991
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=) rs142372284 0.00416
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His) rs149588226 0.00414
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
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_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_000222.3(KIT):c.2502G>A (p.Lys834=) rs146992614 0.00014
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
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_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
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_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_000222.3(KIT):c.2104C>G (p.Leu702Val) rs768847037 0.00004
NM_000222.3(KIT):c.840G>C (p.Ala280=) rs142772432 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 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.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
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_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
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_000222.3(KIT):c.531C>T (p.Arg177=) rs756722358 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_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 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.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 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_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_001754.5(RUNX1):c.1272G>C (p.Ser424=) rs1459260782
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
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.112-9C>T rs727504298
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
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.1110C>G (p.Pro370=) rs1579597009
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.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479

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