ClinVar Miner

List of variants reported as uncertain significance for Insulin-resistant diabetes mellitus AND acanthosis nigricans

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ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.*2318G>A rs80330850 0.00953
NM_000208.4(INSR):c.*3298C>T rs184243377 0.00248
NM_000208.4(INSR):c.*1917G>C rs186013503 0.00205
NM_000208.4(INSR):c.-12G>C rs143135433 0.00186
NM_000208.4(INSR):c.*3009del rs140355086 0.00182
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.*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.*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_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
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.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.*3654G>A rs753611294 0.00032
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.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.*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.*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.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.261C>T (p.Tyr87=) rs145884847 0.00002
NM_000208.4(INSR):c.2842+4A>T rs369081376 0.00002
NM_000208.4(INSR):c.2842+6T>A rs767138526 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.*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.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.3383G>A (p.Arg1128His) rs202160383 0.00001
NM_000208.4(INSR):c.3501C>T (p.Val1167=) rs373794054 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
NM_000208.4(INSR):c.*1067G>A rs141647996
NM_000208.4(INSR):c.*1190A>G rs1972310295
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.*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.*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.*959A>G rs988651664
NM_000208.4(INSR):c.*973dup rs547421118
NM_000208.4(INSR):c.1305A>G (p.Leu435=) rs1463291322
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.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.2602C>T (p.His868Tyr) rs370120425
NM_000208.4(INSR):c.2739G>T (p.Leu913=) rs753461226
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) rs886054688
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.4065C>A (p.Tyr1355Ter) rs140573377
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro) rs52826008
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000208.4(INSR):c.783C>G (p.Asp261Glu) rs891087

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