ClinVar Miner

List of variants in gene INSR reported by Invitae

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Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_000208.4(INSR):c.1862-20A>G rs2245648 0.26534
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.2595C>T (p.Asn865=) rs2229431 0.08453
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_000208.4(INSR):c.2267+17C>T rs41509747 0.04450
NM_000208.4(INSR):c.2231+20C>A rs6413502 0.03725
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.653-7del rs766817873 0.01724
NM_000208.4(INSR):c.3795-5C>T rs78312382 0.01607
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210 0.01346
NM_000208.4(INSR):c.653-9del rs754360103 0.01255
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.909G>A (p.Gln303=) rs9282757 0.00950
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.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.3370-15G>A rs41300628 0.00616
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.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_000208.4(INSR):c.2355G>A (p.Ser785=) rs148137322 0.00285
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
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.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) rs149536206 0.00123
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.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) rs148838377 0.00064
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000208.4(INSR):c.1584G>A (p.Leu528=) rs145334760 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.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000208.4(INSR):c.1503A>G (p.Lys501=) rs9676819 0.00034
NM_000208.4(INSR):c.3530-15C>A rs201189144 0.00031
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
NM_000208.4(INSR):c.3258+16G>A rs372761756 0.00026
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575 0.00025
NM_000208.4(INSR):c.888G>A (p.Ser296=) rs2229428 0.00024
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.2698G>A (p.Val900Ile) rs144029037 0.00021
NM_000208.4(INSR):c.3615G>A (p.Pro1205=) rs146546375 0.00020
NM_000208.4(INSR):c.1191C>T (p.Ile397=) rs56135071 0.00015
NM_000208.4(INSR):c.3174G>A (p.Thr1058=) rs141582849 0.00015
NM_000208.4(INSR):c.3228G>A (p.Ser1076=) rs768764179 0.00014
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690 0.00010
NM_000208.4(INSR):c.894G>A (p.Arg298=) rs757999365 0.00010
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) rs142391704 0.00009
NM_000208.4(INSR):c.3102C>T (p.Phe1034=) rs143521418 0.00009
NM_000208.4(INSR):c.575G>A (p.Gly192Asp) rs143919163 0.00009
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490 0.00008
NM_000208.4(INSR):c.2517C>T (p.Tyr839=) rs769481102 0.00008
NM_000208.4(INSR):c.2598C>T (p.Val866=) rs797045625 0.00008
NM_000208.4(INSR):c.2754G>A (p.Pro918=) rs148994508 0.00008
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000208.4(INSR):c.1092C>T (p.Asn364=) rs779479343 0.00006
NM_000208.4(INSR):c.1203C>T (p.Tyr401=) rs76262811 0.00006
NM_000208.4(INSR):c.1268+5G>A rs762359047 0.00006
NM_000208.4(INSR):c.2361C>T (p.Ser787=) rs751613599 0.00006
NM_000208.4(INSR):c.2799C>T (p.Asn933=) rs113446125 0.00006
NM_000208.4(INSR):c.2853G>A (p.Pro951=) rs200564313 0.00006
NM_000208.4(INSR):c.3809G>A (p.Arg1270His) rs746000108 0.00005
NM_000208.4(INSR):c.1566C>T (p.Pro522=) rs546462100 0.00004
NM_000208.4(INSR):c.1671G>A (p.Thr557=) rs752643772 0.00004
NM_000208.4(INSR):c.2376G>A (p.Pro792=) rs529869522 0.00004
NM_000208.4(INSR):c.578A>G (p.Lys193Arg) rs1365559678 0.00004
NM_000208.4(INSR):c.1050G>A (p.Ser350=) rs751541632 0.00003
NM_000208.4(INSR):c.3805A>T (p.Met1269Leu) rs375197837 0.00003
NM_000208.4(INSR):c.3876C>T (p.Asp1292=) rs781656016 0.00003
NM_000208.4(INSR):c.2319C>T (p.Ala773=) rs766008607 0.00002
NM_000208.4(INSR):c.261C>T (p.Tyr87=) rs145884847 0.00002
NM_000208.4(INSR):c.3324C>T (p.His1108=) rs202111071 0.00002
NM_000208.4(INSR):c.1147G>A (p.Ala383Thr) rs543791069 0.00001
NM_000208.4(INSR):c.1156G>A (p.Gly386Ser) rs764221583 0.00001
NM_000208.4(INSR):c.1246C>T (p.Arg416Ter) rs778989302 0.00001
NM_000208.4(INSR):c.2325C>T (p.Pro775=) rs746508034 0.00001
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp) rs762687424 0.00001
NM_000208.4(INSR):c.3297G>A (p.Thr1099=) rs781555854 0.00001
NM_000208.4(INSR):c.3321T>C (p.Ala1107=) rs1337155856 0.00001
NM_000208.4(INSR):c.3614C>T (p.Pro1205Leu) rs1295645322 0.00001
NM_000208.4(INSR):c.3937G>A (p.Glu1313Lys) rs759636582 0.00001
NM_000208.4(INSR):c.3999G>A (p.Ser1333=) rs746489788 0.00001
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) rs13306449 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
NC_000019.9:g.(?_7117067)_(7123020_?)dup
NM_000208.4(INSR):c.101-19T>C
NM_000208.4(INSR):c.101-2A>G rs2145210376
NM_000208.4(INSR):c.1093G>A (p.Gly365Arg)
NM_000208.4(INSR):c.1123+19G>A
NM_000208.4(INSR):c.1123+4_1123+17del
NM_000208.4(INSR):c.1179G>T (p.Gly393=) rs140573575
NM_000208.4(INSR):c.1245T>A (p.Ile415=)
NM_000208.4(INSR):c.1348C>T (p.Gln450Ter) rs2144950571
NM_000208.4(INSR):c.1377C>G (p.Pro459=)
NM_000208.4(INSR):c.1432C>T (p.Arg478Cys)
NM_000208.4(INSR):c.143A>G (p.His48Arg) rs1364492874
NM_000208.4(INSR):c.1536C>A (p.Ile512=) rs1599937292
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.1843G>A (p.Val615Ile) rs1240624261
NM_000208.4(INSR):c.1852_1853delinsCT (p.Asp618Leu)
NM_000208.4(INSR):c.1861+8T>A
NM_000208.4(INSR):c.1988C>T (p.Ala663Val) rs201034510
NM_000208.4(INSR):c.2029+17G>T
NM_000208.4(INSR):c.2034G>A (p.Leu678=)
NM_000208.4(INSR):c.2084A>G (p.Gln695Arg)
NM_000208.4(INSR):c.2122G>A (p.Glu708Lys)
NM_000208.4(INSR):c.2126G>A (p.Cys709Tyr)
NM_000208.4(INSR):c.2199G>A (p.Glu733=)
NM_000208.4(INSR):c.2214C>T (p.Asn738=)
NM_000208.4(INSR):c.2250T>C (p.Thr750=) rs1599907812
NM_000208.4(INSR):c.2296G>A (p.Asp766Asn)
NM_000208.4(INSR):c.2320G>A (p.Val774Met)
NM_000208.4(INSR):c.2328G>A (p.Thr776=)
NM_000208.4(INSR):c.2375C>T (p.Pro792Leu)
NM_000208.4(INSR):c.241C>G (p.Leu81Val)
NM_000208.4(INSR):c.2456G>A (p.Arg819His)
NM_000208.4(INSR):c.2518G>A (p.Val840Ile)
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.2574G>A (p.Thr858=)
NM_000208.4(INSR):c.25dup (p.Ala9fs)
NM_000208.4(INSR):c.2674G>A (p.Gly892Ser)
NM_000208.4(INSR):c.2682+6G>T
NM_000208.4(INSR):c.2740C>T (p.Arg914Cys)
NM_000208.4(INSR):c.2741G>A (p.Arg914His)
NM_000208.4(INSR):c.2767G>A (p.Val923Met) rs760156961
NM_000208.4(INSR):c.2775C>A (p.Ile925=) rs1423085867
NM_000208.4(INSR):c.2901C>T (p.Leu967=)
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) rs886054688
NM_000208.4(INSR):c.2946-20G>A
NM_000208.4(INSR):c.309C>T (p.Phe103=) rs1600111692
NM_000208.4(INSR):c.3138C>A (p.Ile1046=)
NM_000208.4(INSR):c.3157C>T (p.Arg1053Cys)
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.3203G>A (p.Arg1068Gln)
NM_000208.4(INSR):c.329G>A (p.Arg110Gln)
NM_000208.4(INSR):c.3370-16C>G
NM_000208.4(INSR):c.3370-16C>T
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.3435C>T (p.Asp1145=)
NM_000208.4(INSR):c.3465T>C (p.Phe1155=)
NM_000208.4(INSR):c.3470A>G (p.His1157Arg) rs957304581
NM_000208.4(INSR):c.3472C>T (p.Arg1158Trp)
NM_000208.4(INSR):c.3489A>C (p.Arg1163Ser)
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile) rs121913157
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
NM_000208.4(INSR):c.3633_3634del (p.Val1212fs)
NM_000208.4(INSR):c.3694T>C (p.Leu1232=) rs1599866174
NM_000208.4(INSR):c.38C>T (p.Pro13Leu)
NM_000208.4(INSR):c.3918C>T (p.Ser1306=)
NM_000208.4(INSR):c.3919G>A (p.Glu1307Lys)
NM_000208.4(INSR):c.3991C>T (p.Arg1331Cys)
NM_000208.4(INSR):c.3999G>T (p.Ser1333=) rs746489788
NM_000208.4(INSR):c.4044G>C (p.Ser1348=) rs551853926
NM_000208.4(INSR):c.4086A>G (p.Thr1362=)
NM_000208.4(INSR):c.4121T>G (p.Leu1374Arg)
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln) rs52826008
NM_000208.4(INSR):c.4134G>C (p.Arg1378=) rs763796481
NM_000208.4(INSR):c.422G>A (p.Arg141Gln)
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
NM_000208.4(INSR):c.498C>T (p.Ser166=)
NM_000208.4(INSR):c.509dup (p.Asn170fs)
NM_000208.4(INSR):c.561G>A (p.Pro187=)
NM_000208.4(INSR):c.640C>A (p.His214Asn)
NM_000208.4(INSR):c.652+19G>T
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-23TC[13] rs3835070
NM_000208.4(INSR):c.653-23TC[14] rs3835070
NM_000208.4(INSR):c.653-23TC[15] rs3835070
NM_000208.4(INSR):c.653-23TC[16] rs3835070
NM_000208.4(INSR):c.653-23TC[19]
NM_000208.4(INSR):c.653-23TC[20] rs3835070
NM_000208.4(INSR):c.653-23TC[21]
NM_000208.4(INSR):c.653-23TC[5]
NM_000208.4(INSR):c.653-23TC[8] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-7T>C
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000208.4(INSR):c.712G>A (p.Glu238Lys)
NM_000208.4(INSR):c.741C>T (p.Asp247=)
NM_000208.4(INSR):c.891G>A (p.Arg297=) rs1024295249
NM_000208.4(INSR):c.936C>T (p.Ile312=) rs760555781
NM_000208.4(INSR):c.951C>T (p.Ser317=)
NM_000208.4(INSR):c.952G>A (p.Gly318Arg)
NM_000208.4(INSR):c.975-25CT[7]
NM_000208.4(INSR):c.975-9C>T
NM_000208.4(INSR):c.989C>A (p.Pro330Gln)

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