ClinVar Miner

List of variants in gene INSR studied for Leprechaunism syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP
NC_000019.10:g.(?_7112255)_(7249328_?)del
NG_008852.1:g.[135909G>T;8170_32961del24792]
NM_000208.3(INSR):c.*4794T>C rs10415841
NM_000208.3(INSR):c.*4802C>T rs12150997
NM_000208.3(INSR):c.*4803G>A rs138569451
NM_000208.3(INSR):c.653-7_653-4dupTCTC rs3835070
NM_000208.4(INSR):c.*104A>G rs1051690
NM_000208.4(INSR):c.*1089A>G rs116422284
NM_000208.4(INSR):c.*1116G>A rs146905190
NM_000208.4(INSR):c.*1171C>T rs188386673
NM_000208.4(INSR):c.*1191T>C rs564677377
NM_000208.4(INSR):c.*1192G>A rs142596192
NM_000208.4(INSR):c.*12G>A rs375751275
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*1432C>T rs111557734
NM_000208.4(INSR):c.*1494G>A rs3745550
NM_000208.4(INSR):c.*1525G>A rs886054674
NM_000208.4(INSR):c.*1592G>A rs886054673
NM_000208.4(INSR):c.*1799C>T rs147080388
NM_000208.4(INSR):c.*1870C>G rs41315072
NM_000208.4(INSR):c.*1967G>A rs886054672
NM_000208.4(INSR):c.*1974_*1975del rs148930499
NM_000208.4(INSR):c.*2010G>A rs55972112
NM_000208.4(INSR):c.*2014C>T rs556567528
NM_000208.4(INSR):c.*2136T>A rs886054671
NM_000208.4(INSR):c.*2145_*2146dup rs57473640
NM_000208.4(INSR):c.*2149C>T rs886054670
NM_000208.4(INSR):c.*2160G>T rs570523460
NM_000208.4(INSR):c.*224C>T rs2860171
NM_000208.4(INSR):c.*2255T>G rs547131375
NM_000208.4(INSR):c.*2318G>A rs80330850
NM_000208.4(INSR):c.*2340A>G rs78987925
NM_000208.4(INSR):c.*2405A>T rs886054669
NM_000208.4(INSR):c.*2456C>T rs145777450
NM_000208.4(INSR):c.*2464C>T rs181555180
NM_000208.4(INSR):c.*2502A>G rs149795309
NM_000208.4(INSR):c.*2517A>G rs886054668
NM_000208.4(INSR):c.*2519G>A rs114982195
NM_000208.4(INSR):c.*2565C>T rs117532686
NM_000208.4(INSR):c.*2633del rs532103296
NM_000208.4(INSR):c.*2779G>A rs3745551
NM_000208.4(INSR):c.*2793C>A rs9282760
NM_000208.4(INSR):c.*280G>A rs886054685
NM_000208.4(INSR):c.*2820G>A rs139376149
NM_000208.4(INSR):c.*2853T>C rs186288667
NM_000208.4(INSR):c.*2854G>T rs1864193
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.*3009del rs140355086
NM_000208.4(INSR):c.*3010del rs886054664
NM_000208.4(INSR):c.*3029T>C rs72988602
NM_000208.4(INSR):c.*3298C>T rs184243377
NM_000208.4(INSR):c.*334del rs886054683
NM_000208.4(INSR):c.*3359G>A rs146249924
NM_000208.4(INSR):c.*3365C>A rs561270909
NM_000208.4(INSR):c.*3390_*3392CAA[4] rs886054663
NM_000208.4(INSR):c.*3463A>G rs115358150
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.*3541C>T rs116953519
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.*3592A>G rs75499056
NM_000208.4(INSR):c.*3623A>G rs77859571
NM_000208.4(INSR):c.*3654G>A rs753611294
NM_000208.4(INSR):c.*3685T>C rs143409422
NM_000208.4(INSR):c.*3693G>A rs886054662
NM_000208.4(INSR):c.*3857C>T rs114405975
NM_000208.4(INSR):c.*3877T>C rs148660410
NM_000208.4(INSR):c.*3894G>A rs184154294
NM_000208.4(INSR):c.*394del rs140291876
NM_000208.4(INSR):c.*4186T>C rs1366600
NM_000208.4(INSR):c.*4195T>C rs1366601
NM_000208.4(INSR):c.*4218G>C rs10416396
NM_000208.4(INSR):c.*4270G>A rs74433419
NM_000208.4(INSR):c.*4349C>T rs886054661
NM_000208.4(INSR):c.*4374G>A rs886054660
NM_000208.4(INSR):c.*4379C>T rs886054659
NM_000208.4(INSR):c.*4422G>T rs12642
NM_000208.4(INSR):c.*4474C>T rs1052371
NM_000208.4(INSR):c.*4602C>T rs10413914
NM_000208.4(INSR):c.*4719dup rs543556010
NM_000208.4(INSR):c.*4736T>G rs886054658
NM_000208.4(INSR):c.*4760G>A rs574836227
NM_000208.4(INSR):c.*498_*499insTT rs71775166
NM_000208.4(INSR):c.*501T>G rs562228680
NM_000208.4(INSR):c.*511del rs886054679
NM_000208.4(INSR):c.*541dup rs886054678
NM_000208.4(INSR):c.*613C>T rs779517721
NM_000208.4(INSR):c.*784C>G rs1051651
NM_000208.4(INSR):c.*853A>C rs886054677
NM_000208.4(INSR):c.*926_*927insG rs886054676
NM_000208.4(INSR):c.*927_*928insG rs886054675
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.*973dup rs547421118
NM_000208.4(INSR):c.*999A>G rs372034184
NM_000208.4(INSR):c.-12G>C rs143135433
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435
NM_000208.4(INSR):c.1123+13G>T rs72549236
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) rs267607184
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151
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.1459A>G (p.Lys487Glu) rs121913136
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876
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.1862-4A>G rs2245649
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) rs121913137
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) rs545885277
NM_000208.4(INSR):c.2268-3C>T rs750201666
NM_000208.4(INSR):c.2280A>G (p.Lys760=) rs373695282
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434
NM_000208.4(INSR):c.2471C>T (p.Ala824Val) rs886054689
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.2542+3A>G rs13306451
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432
NM_000208.4(INSR):c.2682+9C>G rs41398545
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) rs387906538
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.4(INSR):c.2853G>A (p.Pro951=) rs200564313
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) rs886054688
NM_000208.4(INSR):c.2946-14T>C rs138585749
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) rs1555735951
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815
NM_000208.4(INSR):c.3054G>A (p.Val1018=) rs886054687
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817
NM_000208.4(INSR):c.3370-12T>G rs200201955
NM_000208.4(INSR):c.3370-15G>A rs41300628
NM_000208.4(INSR):c.3383G>A (p.Arg1128His) rs202160383
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) rs121913153
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp) rs886054686
NM_000208.4(INSR):c.3669C>T (p.Gly1223=) rs750713967
NM_000208.4(INSR):c.3795-5C>T rs78312382
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln) rs753624268
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) rs13306449
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330
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.5C>G (p.Ala2Gly) rs7508518
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145
NM_000208.4(INSR):c.756C>T (p.Cys252=) rs769511771
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) rs121913141
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757
NM_000208.4(INSR):c.921_923CAA[2] (p.Asn309del) rs775724610

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