ClinVar Miner

List of variants in gene INSR studied for Leprechaunism syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_000208.4(INSR):c.*104A>G rs1051690 0.83181
NM_000208.4(INSR):c.*2779G>A rs3745551 0.67433
NM_000208.4(INSR):c.1483+31T>C rs2860178 0.52842
NM_000208.4(INSR):c.*1494G>A rs3745550 0.27864
NM_000208.4(INSR):c.1610+28A>C rs2860177 0.24043
NM_000208.4(INSR):c.*784C>G rs1051651 0.22772
NM_000208.4(INSR):c.*4474C>T rs1052371 0.22677
NM_000208.3(INSR):c.*4802C>T rs12150997 0.22638
NM_000208.4(INSR):c.1861+27C>T rs3815902 0.21056
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000208.4(INSR):c.*2854G>T rs1864193 0.10584
NM_000208.4(INSR):c.*4422G>T rs12642 0.10462
NM_000208.4(INSR):c.*2010G>A rs55972112 0.10448
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_000208.4(INSR):c.*4195T>C rs1366601 0.06149
NM_000208.4(INSR):c.*4186T>C rs1366600 0.06049
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_000208.4(INSR):c.*3029T>C rs72988602 0.04550
NM_000208.4(INSR):c.*1974_*1975del rs148930499 0.02551
NM_000208.4(INSR):c.*224C>T rs2860171 0.02007
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000208.4(INSR):c.2542+3A>G rs13306451 0.01900
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434 0.01850
NM_000208.4(INSR):c.*1432C>T rs111557734 0.01814
NM_000208.4(INSR):c.*2793C>A rs9282760 0.01708
NM_000208.4(INSR):c.3795-5C>T rs78312382 0.01607
NM_000208.3(INSR):c.*4794T>C rs10415841 0.01406
NM_000208.4(INSR):c.*4218G>C rs10416396 0.01362
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210 0.01346
NM_000208.4(INSR):c.*2340A>G rs78987925 0.01226
NM_000208.4(INSR):c.*4602C>T rs10413914 0.01216
NM_000208.4(INSR):c.*3857C>T rs114405975 0.01204
NM_000208.4(INSR):c.*2519G>A rs114982195 0.01193
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000208.4(INSR):c.*2318G>A rs80330850 0.00953
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_000208.4(INSR):c.*3463A>G rs115358150 0.00928
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.*2502A>G rs149795309 0.00665
NM_000208.4(INSR):c.*1089A>G rs116422284 0.00664
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.*3786G>C rs115012090 0.00642
NM_000208.4(INSR):c.3370-15G>A rs41300628 0.00616
NM_000208.4(INSR):c.*498_*499insTT rs71775166 0.00598
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_000208.4(INSR):c.*501T>G rs562228680 0.00400
NM_000208.4(INSR):c.*2820G>A rs139376149 0.00394
NM_000208.4(INSR):c.*4270G>A rs74433419 0.00386
NM_000208.4(INSR):c.*1870C>G rs41315072 0.00376
NM_000208.4(INSR):c.*394del rs140291876 0.00350
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000208.4(INSR):c.*3298C>T rs184243377 0.00248
NM_000208.4(INSR):c.*1171C>T rs188386673 0.00225
NM_000208.4(INSR):c.*1917G>C rs186013503 0.00205
NM_000208.4(INSR):c.*4760G>A rs574836227 0.00186
NM_000208.4(INSR):c.-12G>C rs143135433 0.00186
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.*3009del rs140355086 0.00182
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000208.4(INSR):c.*2853T>C rs186288667 0.00143
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.*2464C>T rs181555180 0.00132
NM_000208.4(INSR):c.*356G>T rs1353247571 0.00128
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000208.4(INSR):c.*4712T>C rs147343062 0.00096
NM_000208.4(INSR):c.*3894G>A rs184154294 0.00093
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_000208.4(INSR):c.*2255T>G rs547131375 0.00071
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) rs148838377 0.00064
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000208.4(INSR):c.*2149C>T rs886054670 0.00052
NM_000208.4(INSR):c.*1116G>A rs146905190 0.00051
NM_000208.3(INSR):c.*4803G>A rs138569451 0.00048
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000208.4(INSR):c.*1967G>A rs886054672 0.00044
NM_000208.4(INSR):c.*499G>T rs1173572474 0.00044
NM_000208.4(INSR):c.*2136T>A rs886054671 0.00043
NM_000208.4(INSR):c.*3359G>A rs146249924 0.00038
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000208.4(INSR):c.*1799C>T rs147080388 0.00033
NM_000208.4(INSR):c.*2565C>T rs117532686 0.00029
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
NM_000208.4(INSR):c.*1191T>C rs564677377 0.00026
NM_000208.4(INSR):c.*2456C>T rs145777450 0.00025
NM_000208.4(INSR):c.*3877T>C rs148660410 0.00025
NM_000208.4(INSR):c.2698G>A (p.Val900Ile) rs144029037 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000208.4(INSR):c.*1573C>T rs549250341 0.00016
NM_000208.4(INSR):c.*2160G>T rs570523460 0.00014
NM_000208.4(INSR):c.*613C>T rs779517721 0.00014
NM_000208.4(INSR):c.*87C>T rs749041393 0.00014
NM_000208.4(INSR):c.*1574G>A rs367868568 0.00013
NM_000208.4(INSR):c.*4696T>C rs546415055 0.00013
NM_000208.4(INSR):c.*1192G>A rs142596192 0.00011
NM_000208.4(INSR):c.*1584C>G rs535755401 0.00011
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.*4374G>A rs886054660 0.00010
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) rs142391704 0.00009
NM_000208.4(INSR):c.575G>A (p.Gly192Asp) rs143919163 0.00009
NM_000208.4(INSR):c.*97A>G rs1030133375 0.00008
NM_000208.4(INSR):c.*999A>G rs372034184 0.00008
NM_000208.4(INSR):c.2596G>A (p.Val866Ile) rs200110540 0.00008
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000208.4(INSR):c.*2568G>A rs973027799 0.00007
NM_000208.4(INSR):c.*1137A>G rs192753442 0.00006
NM_000208.4(INSR):c.*2023A>G rs754015320 0.00006
NM_000208.4(INSR):c.*2322G>A rs561917859 0.00006
NM_000208.4(INSR):c.*3019C>A rs1037171690 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00006
NM_000208.4(INSR):c.221G>A (p.Arg74Gln) rs766295952 0.00006
NM_000208.4(INSR):c.2280A>G (p.Lys760=) rs373695282 0.00006
NM_000208.4(INSR):c.2682+7C>T rs200618148 0.00006
NM_000208.4(INSR):c.2853G>A (p.Pro951=) rs200564313 0.00006
NM_000208.4(INSR):c.3370-12T>G rs200201955 0.00006
NM_000208.4(INSR):c.*12G>A rs375751275 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000208.4(INSR):c.*1001A>G rs766637171 0.00004
NM_000208.4(INSR):c.*1045C>T rs756351376 0.00004
NM_000208.4(INSR):c.*241G>A rs369919269 0.00004
NM_000208.4(INSR):c.*2475A>G rs1401575339 0.00004
NM_000208.4(INSR):c.-62C>T rs532052290 0.00004
NM_000208.4(INSR):c.1084G>A (p.Val362Ile) rs72549237 0.00004
NM_000208.4(INSR):c.*1591C>T rs545450279 0.00003
NM_000208.4(INSR):c.*2014C>T rs556567528 0.00003
NM_000208.4(INSR):c.*3693G>A rs886054662 0.00003
NM_000208.4(INSR):c.*4379C>T rs886054659 0.00003
NM_000208.4(INSR):c.*4380G>A rs1016440018 0.00003
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp) rs886054686 0.00003
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln) rs753624268 0.00003
NM_000208.4(INSR):c.*280G>A rs886054685 0.00002
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) rs777486535 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.261C>T (p.Tyr87=) rs145884847 0.00002
NM_000208.4(INSR):c.2848G>A (p.Val950Ile) rs139944962 0.00002
NM_000208.4(INSR):c.345C>T (p.Phe115=) rs374952799 0.00002
NM_000208.4(INSR):c.3669C>T (p.Gly1223=) rs750713967 0.00002
NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala) rs55875349 0.00002
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145 0.00002
NM_000208.4(INSR):c.*2405A>T rs886054669 0.00001
NM_000208.4(INSR):c.*2517A>G rs886054668 0.00001
NM_000208.4(INSR):c.*442G>T rs1325974020 0.00001
NM_000208.4(INSR):c.*926_*927insG rs886054676 0.00001
NM_000208.4(INSR):c.1056G>A (p.Thr352=) rs765176874 0.00001
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151 0.00001
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) rs121913136 0.00001
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.2268-3C>T rs750201666 0.00001
NM_000208.4(INSR):c.2276G>A (p.Arg759Gln) rs1460294044 0.00001
NM_000208.4(INSR):c.2380G>A (p.Glu794Lys) rs376600434 0.00001
NM_000208.4(INSR):c.2543-13C>T rs1187901881 0.00001
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223 0.00001
NM_000208.4(INSR):c.3383G>A (p.Arg1128His) rs202160383 0.00001
NM_000208.4(INSR):c.3501C>T (p.Val1167=) rs373794054 0.00001
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) rs13306449 0.00001
NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser) rs377701938 0.00001
NM_000208.4(INSR):c.474C>T (p.Ile158=) rs752803584 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000208.4(INSR):c.756C>T (p.Cys252=) rs769511771 0.00001
NG_008852.1:g.[135909G>T;8170_32961del24792]
NM_000208.4(INSR):c.*1067G>A rs141647996
NM_000208.4(INSR):c.*1190A>G rs1972310295
NM_000208.4(INSR):c.*130A>T rs571448308
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*1525G>A rs886054674
NM_000208.4(INSR):c.*1592G>A rs886054673
NM_000208.4(INSR):c.*1831C>A rs111750247
NM_000208.4(INSR):c.*1831C>T rs111750247
NM_000208.4(INSR):c.*1909A>G rs989727643
NM_000208.4(INSR):c.*2102T>C rs1972287724
NM_000208.4(INSR):c.*2145_*2146dup rs57473640
NM_000208.4(INSR):c.*214G>A rs1972340823
NM_000208.4(INSR):c.*2633del rs532103296
NM_000208.4(INSR):c.*2752C>G rs577444458
NM_000208.4(INSR):c.*2752C>T rs577444458
NM_000208.4(INSR):c.*288del rs35434645
NM_000208.4(INSR):c.*289del rs886054684
NM_000208.4(INSR):c.*3008_*3009del rs1555733404
NM_000208.4(INSR):c.*3008del rs72149315
NM_000208.4(INSR):c.*3010del rs886054664
NM_000208.4(INSR):c.*3013C>G rs533582304
NM_000208.4(INSR):c.*302A>G rs1972337815
NM_000208.4(INSR):c.*3101C>G rs1474403993
NM_000208.4(INSR):c.*334C>T rs1016923782
NM_000208.4(INSR):c.*334del rs886054683
NM_000208.4(INSR):c.*3365C>A rs561270909
NM_000208.4(INSR):c.*3390CAA[4] rs886054663
NM_000208.4(INSR):c.*348_*355dup rs71177157
NM_000208.4(INSR):c.*349_*355dup rs71177157
NM_000208.4(INSR):c.*352_*355dup rs71177157
NM_000208.4(INSR):c.*355_*356del rs1491388964
NM_000208.4(INSR):c.*356_*357del rs1555733954
NM_000208.4(INSR):c.*358_*359insTTTTTT rs886054680
NM_000208.4(INSR):c.*3855C>G rs1233808516
NM_000208.4(INSR):c.*3858G>A rs912366991
NM_000208.4(INSR):c.*4349C>T rs886054661
NM_000208.4(INSR):c.*4376G>C rs1277836861
NM_000208.4(INSR):c.*4719dup rs543556010
NM_000208.4(INSR):c.*4736T>G rs886054658
NM_000208.4(INSR):c.*511del rs886054679
NM_000208.4(INSR):c.*541dup rs886054678
NM_000208.4(INSR):c.*743A>G rs1459964736
NM_000208.4(INSR):c.*853A>C rs886054677
NM_000208.4(INSR):c.*927_*928insG rs886054675
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.*959A>G rs988651664
NM_000208.4(INSR):c.*973dup rs547421118
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) rs267607184
NM_000208.4(INSR):c.1305A>G (p.Leu435=) rs1463291322
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) rs121913158
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) rs121913160
NM_000208.4(INSR):c.1610+1G>A
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.164T>C (p.Val55Ala) rs121913152
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.167T>C (p.Ile56Thr) rs1555689937
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) rs52836744
NM_000208.4(INSR):c.1866C>T (p.Pro622=) rs767792551
NM_000208.4(INSR):c.1988C>T (p.Ala663Val) rs201034510
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) rs121913137
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) rs545885277
NM_000208.4(INSR):c.2471C>T (p.Ala824Val) rs886054689
NM_000208.4(INSR):c.2522G>A (p.Ser841Asn) rs780976765
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.2602C>T (p.His868Tyr) rs370120425
NM_000208.4(INSR):c.2739G>T (p.Leu913=) rs753461226
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) rs387906538
NM_000208.4(INSR):c.2810C>T (p.Thr937Met)
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) rs886054688
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) rs1555735951
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser) rs1281347529
NM_000208.4(INSR):c.3054G>A (p.Val1018=) rs886054687
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) rs121913153
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro) rs52826008
NM_000208.4(INSR):c.438C>G (p.Ile146Met) rs121913159
NM_000208.4(INSR):c.442A>T (p.Lys148Ter) rs121913155
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
NM_000208.4(INSR):c.632C>T (p.Thr211Ile) rs1967766760
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) rs121913141
NM_000208.4(INSR):c.783C>G (p.Asp261Glu) rs891087
NM_000208.4(INSR):c.921CAA[2] (p.Asn309del) rs775724610

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