ClinVar Miner

List of variants reported as uncertain significance for small intestine neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.*299G>C rs185479436 0.00330
NM_000222.3(KIT):c.*252G>T rs376694515 0.00148
NM_006206.6(PDGFRA):c.*2336T>C rs574665425 0.00121
NM_006206.6(PDGFRA):c.*534A>G rs566508858 0.00099
NM_006206.6(PDGFRA):c.*2100A>G rs192159089 0.00083
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.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_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_006206.6(PDGFRA):c.*1249C>T rs777258903 0.00026
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_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.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.*1971C>T rs886059459 0.00006
NM_006206.6(PDGFRA):c.*2110C>T rs777478254 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_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.*2111G>A rs554089461 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_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.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.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.-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.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.*1111del rs34529347
NM_006206.6(PDGFRA):c.*1112_*1113del rs886059456
NM_006206.6(PDGFRA):c.*1133T>C rs1577757730
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>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.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.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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