ClinVar Miner

List of variants in gene INSR reported by OMIM

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Gene type:
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Total variants: 33
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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.707A>G (p.His236Arg) rs121913145 0.00002
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151 0.00001
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) rs121913136 0.00001
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) rs121913147 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) rs121913144 0.00001
NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln) rs121913150 0.00001
INSR, EX17, ALU
NM_000208.3(INSR):c.2683-542_2842+544del
NM_000208.4(INSR):c.1124-2A>G rs587776819
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) rs267607184
NM_000208.4(INSR):c.1225T>G (p.Phe409Val) rs121913142
NM_000208.4(INSR):c.126C>A (p.Asn42Lys) rs121913143
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.164T>C (p.Val55Ala) rs121913152
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) rs52836744
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) rs121913137
NM_000208.4(INSR):c.2286G>T (p.Arg762Ser) rs121913138
NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) rs587776820
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) rs387906538
NM_000208.4(INSR):c.3104G>T (p.Gly1035Val) rs121913135
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) rs121913153
NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr) rs121913139
NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu) rs121913154
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile) rs121913157
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser) rs121913140
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.479G>A (p.Trp160Ter) rs121913146
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) rs121913141

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