ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.3222T>C (p.Asp1074=) rs7685117 0.99715
NM_006206.6(PDGFRA):c.*1511C>A rs1565664 0.99713
NM_006206.6(PDGFRA):c.*78A>G rs7680422 0.99696
NM_006206.6(PDGFRA):c.*2387T>G rs10034498 0.98765
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) rs1873778 0.96449
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) rs2228230 0.20293
NM_006206.6(PDGFRA):c.612T>C (p.Asn204=) rs2229307 0.18155
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=) rs4358459 0.17993
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) rs10028020 0.17567
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_000222.3(KIT):c.*1704G>T rs8022 0.15801
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15501
NM_000222.3(KIT):c.*149C>T rs2213181 0.11143
NM_000222.3(KIT):c.*217G>A rs17084733 0.10115
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_006206.6(PDGFRA):c.*832T>C rs12511976 0.06163
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04639
NM_006206.6(PDGFRA):c.*1137G>A rs55710909 0.03512
NM_006206.6(PDGFRA):c.932-4A>G rs78405886 0.03447
NM_000222.3(KIT):c.1638A>G (p.Lys546=) rs55986963 0.02258
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000222.3(KIT):c.2847C>T (p.Pro949=) rs56288823 0.01843
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_006206.6(PDGFRA):c.*1429C>T rs56288633 0.01364
NM_006206.6(PDGFRA):c.*2504C>T rs149631103 0.00952
NM_000222.3(KIT):c.*66T>G rs112972811 0.00939
NM_000222.3(KIT):c.*1241G>A rs114377961 0.00931
NM_000222.3(KIT):c.1119C>T (p.Tyr373=) rs72549293 0.00903
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_000222.3(KIT):c.1794A>T (p.Gly598=) rs72549292 0.00884
NM_000222.3(KIT):c.*1524A>G rs17084736 0.00770
NM_006206.6(PDGFRA):c.1320G>A (p.Thr440=) rs56026726 0.00722
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_000222.3(KIT):c.*2017T>C rs115028437 0.00555
NM_006206.6(PDGFRA):c.*2559G>A rs138584193 0.00503
NM_000222.3(KIT):c.*1220C>T rs56372445 0.00418
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=) rs35805947 0.00410
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_000222.3(KIT):c.*1791G>A rs77842054 0.00358
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.*352A>G rs149336515 0.00319
NM_006206.5(PDGFRA):c.-170C>T rs183431225 0.00310
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00308
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000222.3(KIT):c.*888T>C rs188598702 0.00289
NM_000222.3(KIT):c.*299G>C rs185479436 0.00287
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00265
NM_000222.3(KIT):c.1120G>A (p.Val374Ile) rs73137716 0.00218
NM_006206.6(PDGFRA):c.996C>T (p.Val332=) rs142498442 0.00204
NM_000222.3(KIT):c.2622G>A (p.Pro874=) rs55817813 0.00188
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622 0.00183
NM_000222.3(KIT):c.123A>T (p.Pro41=) rs72549300 0.00182
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00180
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000222.3(KIT):c.*252G>T rs376694515 0.00148
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_000222.3(KIT):c.*1834A>G rs186953545 0.00123
NM_006206.5(PDGFRA):c.-284G>A rs145549583 0.00121
NM_006206.6(PDGFRA):c.*2336T>C rs574665425 0.00121
NM_006206.6(PDGFRA):c.*1821A>C rs187821520 0.00116
NM_006206.6(PDGFRA):c.*2538G>A rs377126983 0.00097
NM_006206.6(PDGFRA):c.*534A>G rs566508858 0.00088
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_006206.6(PDGFRA):c.*2873C>T rs147418921 0.00085
NM_006206.6(PDGFRA):c.*2546A>G rs112690644 0.00083
NM_006206.6(PDGFRA):c.*2100A>G rs192159089 0.00079
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782 0.00076
NC_000004.12:g.54298259G>A rs137930765 0.00073
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=) rs55996208 0.00064
NM_000222.3(KIT):c.*790A>G rs189995563 0.00059
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00058
NM_006206.6(PDGFRA):c.*2496A>G rs184179322 0.00058
NM_006206.6(PDGFRA):c.*39C>T rs55681376 0.00055
NM_006206.6(PDGFRA):c.*793C>T rs557191329 0.00051
NM_000222.3(KIT):c.-21G>T rs201778132 0.00049
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00043
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00036
NM_006206.6(PDGFRA):c.*2970G>T rs752208389 0.00035
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00034
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_000222.3(KIT):c.67+12C>T rs374618962 0.00031
NM_006206.5(PDGFRA):c.-318G>A rs533627398 0.00030
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=) rs140725151 0.00030
NM_006206.6(PDGFRA):c.*332G>A rs750090756 0.00029
NM_006206.6(PDGFRA):c.-13+12G>T rs760170961 0.00029
NM_000222.3(KIT):c.1594G>A (p.Val532Ile) rs55792975 0.00028
NM_006206.6(PDGFRA):c.*1249C>T rs777258903 0.00026
NM_006206.6(PDGFRA):c.*1561T>C rs145328998 0.00025
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) rs55966236 0.00024
NM_000222.3(KIT):c.*2056G>A rs567475861 0.00023
NM_006206.6(PDGFRA):c.*1928G>C rs748063948 0.00023
NM_000222.3(KIT):c.*390A>G rs528891717 0.00022
NM_006206.6(PDGFRA):c.*2121C>A rs557865852 0.00022
NM_006206.6(PDGFRA):c.*2142G>A rs914482961 0.00020
NM_006206.6(PDGFRA):c.*2186G>A rs569793596 0.00020
NM_006206.6(PDGFRA):c.*691G>A rs117287047 0.00020
NM_000222.3(KIT):c.952A>G (p.Met318Val) rs143388949 0.00019
NM_006206.6(PDGFRA):c.*1778C>A rs182602738 0.00019
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000222.3(KIT):c.2484C>T (p.Asn828=) rs141347955 0.00016
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00015
NM_000222.3(KIT):c.2234-3C>T rs370131461 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_000222.3(KIT):c.*597C>T rs746982052 0.00013
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000222.3(KIT):c.978C>T (p.Asn326=) rs148594615 0.00011
NM_006206.6(PDGFRA):c.*2604G>T rs547925170 0.00011
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00011
NM_000222.3(KIT):c.*1086C>T rs533152310 0.00010
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His) rs368266633 0.00010
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_006206.6(PDGFRA):c.*1133T>C rs1577757730 0.00009
NM_006206.6(PDGFRA):c.*2256G>T rs544503522 0.00009
NM_000222.3(KIT):c.*17G>A rs377596175 0.00008
NM_000222.3(KIT):c.464C>T (p.Pro155Leu) rs367719489 0.00008
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00008
NM_006206.6(PDGFRA):c.*1971C>T rs886059459 0.00007
NM_006206.6(PDGFRA):c.*2226C>A rs556595868 0.00007
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_006206.6(PDGFRA):c.*2079A>G rs187487079 0.00006
NM_006206.6(PDGFRA):c.*2110C>T rs777478254 0.00006
NM_006206.6(PDGFRA):c.*2465A>G rs78148538 0.00006
NM_006206.6(PDGFRA):c.*936A>C rs886059452 0.00006
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) rs142492533 0.00006
NM_000222.3(KIT):c.*701A>G rs747912015 0.00005
NM_000222.3(KIT):c.2802+9A>G rs369450271 0.00005
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) rs149031291 0.00005
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=) rs56384252 0.00005
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00005
NM_000222.3(KIT):c.*1808A>G rs762662037 0.00004
NM_006206.6(PDGFRA):c.*1809G>C rs565989173 0.00004
NM_006206.6(PDGFRA):c.*1939T>C rs368579295 0.00004
NM_006206.6(PDGFRA):c.*2111G>A rs554089461 0.00004
NM_006206.6(PDGFRA):c.*72C>A rs886059449 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006206.6(PDGFRA):c.*1039A>G rs981481475 0.00003
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) rs199902153 0.00003
NM_000222.3(KIT):c.*530A>G rs534199544 0.00002
NM_000222.3(KIT):c.1139C>T (p.Thr380Met) rs760981584 0.00002
NM_000222.3(KIT):c.1618G>C (p.Val540Leu) rs756179543 0.00002
NM_006206.6(PDGFRA):c.*136G>A rs886059450 0.00002
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=) rs190260215 0.00002
NM_000222.3(KIT):c.*1059C>T rs886059467 0.00001
NM_000222.3(KIT):c.*1101A>G rs886059468 0.00001
NM_000222.3(KIT):c.*1190A>G rs1016796314 0.00001
NM_000222.3(KIT):c.*2041A>G rs922217138 0.00001
NM_000222.3(KIT):c.*368C>T rs886059465 0.00001
NM_000222.3(KIT):c.*393A>G rs886059466 0.00001
NM_000222.3(KIT):c.*575A>G rs950845391 0.00001
NM_000222.3(KIT):c.1274T>A (p.Met425Lys) rs878853760 0.00001
NM_000222.3(KIT):c.1889A>G (p.His630Arg) rs373554876 0.00001
NM_000222.3(KIT):c.2118T>G (p.Leu706=) rs766840704 0.00001
NM_000222.3(KIT):c.2562C>G (p.Ser854=) rs750039813 0.00001
NM_000222.3(KIT):c.2670C>T (p.Leu890=) rs745967881 0.00001
NM_000222.3(KIT):c.2848G>A (p.Val950Met) rs146374006 0.00001
NM_000222.3(KIT):c.301C>T (p.His101Tyr) rs781130745 0.00001
NM_006206.6(PDGFRA):c.*1050C>T rs1560497216 0.00001
NM_006206.6(PDGFRA):c.*1102T>G rs1577757624 0.00001
NM_006206.6(PDGFRA):c.*1195A>C rs1219021519 0.00001
NM_006206.6(PDGFRA):c.*1334G>A rs1278770606 0.00001
NM_006206.6(PDGFRA):c.*1521C>T rs886059457 0.00001
NM_006206.6(PDGFRA):c.*1706T>C rs886059458 0.00001
NM_006206.6(PDGFRA):c.*2475C>T rs886059460 0.00001
NM_006206.6(PDGFRA):c.*2655A>G rs910994718 0.00001
NM_006206.6(PDGFRA):c.*2840A>G rs886059462 0.00001
NM_006206.6(PDGFRA):c.*505A>G rs373134586 0.00001
NM_006206.6(PDGFRA):c.*574_*575del rs886059451 0.00001
NM_006206.6(PDGFRA):c.*998C>G rs1006360272 0.00001
NM_006206.6(PDGFRA):c.1122-6T>A rs754623338 0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888 0.00001
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=) rs1218651787 0.00001
NM_006206.6(PDGFRA):c.2003-7C>T rs886059447 0.00001
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=) rs773679384 0.00001
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=) rs1060504254 0.00001
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387 0.00001
NM_006206.6(PDGFRA):c.2881-8G>A rs778161572 0.00001
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly) rs375050626 0.00001
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=) rs778510648 0.00001
NM_000222.3(KIT):c.*1087G>C rs144602457
NM_000222.3(KIT):c.*1487_*1490del rs374796688
NM_000222.3(KIT):c.*1577T>C rs1285763768
NM_000222.3(KIT):c.*198A>G rs886059464
NM_000222.3(KIT):c.*37T>C rs1723067916
NM_000222.3(KIT):c.*381C>T rs1723087369
NM_000222.3(KIT):c.*929G>A rs572274912
NM_000222.3(KIT):c.-56A>C rs1560366372
NM_000222.3(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000222.3(KIT):c.1264G>A (p.Val422Met) rs1560414398
NM_000222.3(KIT):c.148G>T (p.Val50Leu) rs200950545
NM_000222.3(KIT):c.211C>G (p.Leu71Val) rs1720013807
NM_000222.3(KIT):c.252G>A (p.Thr84=) rs56411694
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.3(KIT):c.2923G>C (p.Asp975His) rs373152714
NM_000222.3(KIT):c.615G>A (p.Arg205=) rs1720239935
NM_000222.3(KIT):c.78A>C (p.Gln26His) rs764782713
NM_006206.5(PDGFRA):c.-284G>T rs145549583
NM_006206.6(PDGFRA):c.*1109_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1110_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1111del rs34529347
NM_006206.6(PDGFRA):c.*1112_*1113del rs886059456
NM_006206.6(PDGFRA):c.*2281C>A rs1724934694
NM_006206.6(PDGFRA):c.*2494C>A rs886059461
NM_006206.6(PDGFRA):c.*2856A>G rs886059463
NM_006206.6(PDGFRA):c.*374A>C rs3690
NM_006206.6(PDGFRA):c.*374A>T rs3690
NM_006206.6(PDGFRA):c.*590C>A rs993682652
NM_006206.6(PDGFRA):c.*791A>T rs1724865504
NM_006206.6(PDGFRA):c.*970CAAA[1] rs757111915
NM_006206.6(PDGFRA):c.-106AG[1] rs1799767
NM_006206.6(PDGFRA):c.1365-12T>C rs886059445
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=) rs1723603076
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro) rs1723641220
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=) rs886059446
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn) rs1723832515
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=) rs886059443
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=) rs771421611
NM_006206.6(PDGFRA):c.2674+6G>A rs886059448
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=) rs1724822643
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met) rs148629782
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=) rs1461385164
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly) rs541057765
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=) rs886059444
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala) rs878854837

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.