ClinVar Miner

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

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Minimum conflict level:
ClinVar version:
Total variants: 224
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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 0.98684
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 0.17867
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=) rs4358459 0.17704
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) rs10028020 0.17498
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_000222.3(KIT):c.*1704G>T rs8022 0.16223
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_000222.3(KIT):c.*149C>T rs2213181 0.11143
NM_000222.3(KIT):c.*217G>A rs17084733 0.10193
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_006206.6(PDGFRA):c.*832T>C rs12511976 0.06370
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
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 0.00967
NM_000222.3(KIT):c.1119C>T (p.Tyr373=) rs72549293 0.00964
NM_000222.3(KIT):c.1794A>T (p.Gly598=) rs72549292 0.00952
NM_000222.3(KIT):c.*66T>G rs112972811 0.00939
NM_000222.3(KIT):c.*1241G>A rs114377961 0.00931
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_000222.3(KIT):c.*1524A>G rs17084736 0.00815
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_006206.6(PDGFRA):c.201C>T (p.Ser67=) rs35805947 0.00429
NM_000222.3(KIT):c.*1220C>T rs56372445 0.00418
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.*299G>C rs185479436 0.00330
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_000222.3(KIT):c.*352A>G rs149336515 0.00319
NM_006206.5(PDGFRA):c.-170C>T rs183431225 0.00310
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.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_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000222.3(KIT):c.*252G>T rs376694515 0.00148
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00148
NM_000222.3(KIT):c.*1834A>G rs186953545 0.00125
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
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.1731G>A (p.Pro577=) rs55830582 0.00105
NM_006206.6(PDGFRA):c.*534A>G rs566508858 0.00099
NM_006206.6(PDGFRA):c.*2538G>A rs377126983 0.00095
NM_006206.6(PDGFRA):c.*2873C>T rs147418921 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_006206.6(PDGFRA):c.*2100A>G rs192159089 0.00083
NM_006206.6(PDGFRA):c.*2546A>G rs112690644 0.00081
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782 0.00076
NM_006206.5(PDGFRA):c.*2973+14G>A rs137930765 0.00074
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 0.00059
NM_006206.6(PDGFRA):c.*2496A>G rs184179322 0.00058
NM_006206.6(PDGFRA):c.*39C>T rs55681376 0.00055
NM_000222.3(KIT):c.-21G>T rs201778132 0.00049
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_006206.6(PDGFRA):c.*2970G>T rs752208389 0.00035
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.*1928G>C rs748063948 0.00025
NM_000222.3(KIT):c.*2056G>A rs567475861 0.00024
NM_006206.6(PDGFRA):c.*2121C>A rs557865852 0.00024
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) rs55966236 0.00024
NM_000222.3(KIT):c.*390A>G rs528891717 0.00022
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 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 0.00015
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_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_000222.3(KIT):c.464C>T (p.Pro155Leu) rs367719489 0.00009
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_000222.3(KIT):c.*17G>A rs377596175 0.00008
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00008
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_006206.6(PDGFRA):c.*1971C>T rs886059459 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.2742G>C (p.Arg914=) rs56384252 0.00006
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) rs142492533 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_000222.3(KIT):c.*701A>G rs747912015 0.00005
NM_006206.6(PDGFRA):c.*2079A>G rs187487079 0.00005
NM_000222.3(KIT):c.*1808A>G rs762662037 0.00004
NM_000222.3(KIT):c.2802+9A>G rs369450271 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.*2256G>T rs544503522 0.00004
NM_006206.6(PDGFRA):c.*72C>A rs886059449 0.00004
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) rs149031291 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) rs199902153 0.00003
NM_000222.3(KIT):c.1139C>T (p.Thr380Met) rs760981584 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.*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.1618G>C (p.Val540Leu) rs756179543 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.*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.*793C>T rs557191329 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.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.*1059C>T rs886059467
NM_000222.3(KIT):c.*1087G>C rs144602457
NM_000222.3(KIT):c.*1101A>G rs886059468
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.*530A>G rs534199544
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.*1039A>G rs981481475
NM_006206.6(PDGFRA):c.*1050C>T rs1560497216
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.*1133T>C rs1577757730
NM_006206.6(PDGFRA):c.*1137G>A rs55710909
NM_006206.6(PDGFRA):c.*1821A>C rs187821520
NM_006206.6(PDGFRA):c.*2226C>A rs556595868
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.*574_*575del rs886059451
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.*998C>G rs1006360272
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.2040A>C (p.Gly680=) rs773679384
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

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