ClinVar Miner

List of variants in gene INSR reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 73
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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.653-7del rs766817873 0.01724
NM_000208.4(INSR):c.653-9del rs754360103 0.01255
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.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
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.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.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
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.2293G>A (p.Gly765Ser) rs146698985 0.00036
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000208.4(INSR):c.320C>T (p.Thr107Met) rs140762552 0.00019
NM_000208.4(INSR):c.1191C>T (p.Ile397=) rs56135071 0.00015
NM_000208.4(INSR):c.2976C>T (p.Tyr992=) rs191756282 0.00015
NM_000208.4(INSR):c.690C>T (p.Ala230=) rs373720760 0.00014
NM_000208.4(INSR):c.3591G>C (p.Leu1197=) rs776228235 0.00012
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.2766C>T (p.Ser922=) rs145713001 0.00011
NM_000208.4(INSR):c.2081C>T (p.Ser694Phe) rs574155637 0.00009
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) rs142391704 0.00009
NM_000208.4(INSR):c.2598C>T (p.Val866=) rs797045625 0.00008
NM_000208.4(INSR):c.123G>T (p.Arg41=) rs372938158 0.00007
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000208.4(INSR):c.1084G>A (p.Val362Ile) rs72549237 0.00004
NM_000208.4(INSR):c.386A>G (p.Lys129Arg) rs1310336610 0.00003
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 0.00002
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145 0.00002
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.1610+2T>C rs797045624 0.00001
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp) rs762687424 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000208.4(INSR):c.1001C>T (p.Pro334Leu) rs373995681
NM_000208.4(INSR):c.1179G>T (p.Gly393=) rs140573575
NM_000208.4(INSR):c.14del (p.Gly5fs) rs1419070784
NM_000208.4(INSR):c.1907C>T (p.Ser636Phe) rs1168145595
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) rs1599874183
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile) rs2144813778
NM_000208.4(INSR):c.3261G>A (p.Val1087=) rs2144806014
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.3454G>C (p.Ala1152Pro) rs777183063
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del) rs2144790591
NM_000208.4(INSR):c.3957G>C (p.Met1319Ile) rs199599404
NM_000208.4(INSR):c.39delinsCCTGCTGGTGGCGGTGGCCGCGCCC (p.Pro13_Ala20dup) rs2145264985
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
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[8] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-5_653-4insTC rs1555746859
NM_000208.4(INSR):c.653-7_653-6insTC rs1555746860
NM_000208.4(INSR):c.784G>A (p.Gly262Ser) rs141484557
NM_000208.4(INSR):c.851G>A (p.Ser284Asn) rs2144988797

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