ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000208.4(INSR):c.2355G>A (p.Ser785=) rs148137322 0.00285
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.2793G>A (p.Ala931=) rs111502197 0.00088
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.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.2081C>T (p.Ser694Phe) rs574155637 0.00009
NM_000208.4(INSR):c.2598C>T (p.Val866=) rs797045625 0.00008
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.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp) rs762687424 0.00001
NM_000208.4(INSR):c.1001C>T (p.Pro334Leu) rs373995681
NM_000208.4(INSR):c.1907C>T (p.Ser636Phe) rs1168145595
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.3957G>C (p.Met1319Ile) rs199599404
NM_000208.4(INSR):c.39delinsCCTGCTGGTGGCGGTGGCCGCGCCC (p.Pro13_Ala20dup) rs2145264985
NM_000208.4(INSR):c.653-5_653-4insTC rs1555746859
NM_000208.4(INSR):c.784G>A (p.Gly262Ser) rs141484557
NM_000208.4(INSR):c.851G>A (p.Ser284Asn) rs2144988797

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