ClinVar Miner

List of variants in gene IGF1R studied for Inborn genetic diseases

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469 0.00064
NM_000875.5(IGF1R):c.4066G>A (p.Glu1356Lys) rs746562843 0.00011
NM_000875.5(IGF1R):c.4096A>C (p.Thr1366Pro) rs773129173 0.00010
NM_000875.5(IGF1R):c.3094A>G (p.Ile1032Val) rs374208921 0.00007
NM_000875.5(IGF1R):c.2077G>A (p.Gly693Ser) rs375617925 0.00006
NM_000875.5(IGF1R):c.2258G>A (p.Arg753Gln) rs987303175 0.00006
NM_000875.5(IGF1R):c.1573G>A (p.Val525Ile) rs201778894 0.00004
NM_000875.5(IGF1R):c.3668G>A (p.Arg1223His) rs373732310 0.00004
NM_000875.5(IGF1R):c.2795A>G (p.Asn932Ser) rs898510509 0.00003
NM_000875.5(IGF1R):c.1693G>A (p.Gly565Ser) rs747472047 0.00002
NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln) rs121912429 0.00002
NM_000875.5(IGF1R):c.2288A>G (p.Tyr763Cys) rs1036734378 0.00002
NM_000875.5(IGF1R):c.1868C>G (p.Ser623Cys) rs886051560 0.00001
NM_000875.5(IGF1R):c.1913A>G (p.Asn638Ser) rs144533252 0.00001
NM_000875.5(IGF1R):c.2078G>A (p.Gly693Asp) rs761581251 0.00001
NM_000875.5(IGF1R):c.2380C>T (p.Arg794Trp) rs753047347 0.00001
NM_000875.5(IGF1R):c.3307G>A (p.Val1103Ile) rs776238072 0.00001
NM_000875.5(IGF1R):c.3685G>A (p.Gly1229Ser) rs368518102 0.00001
NM_000875.5(IGF1R):c.3709T>A (p.Cys1237Ser) rs757046261 0.00001
NM_000875.5(IGF1R):c.3757C>A (p.Pro1253Thr) rs1231440604 0.00001
NM_000875.5(IGF1R):c.3824G>A (p.Arg1275Gln) rs556294716 0.00001
NM_000875.5(IGF1R):c.722C>T (p.Ala241Val) rs148823172 0.00001
NM_000875.5(IGF1R):c.736A>G (p.Thr246Ala) rs753134217 0.00001
NM_000875.5(IGF1R):c.1118A>C (p.Glu373Ala) rs2505986593
NM_000875.5(IGF1R):c.1849G>A (p.Val617Ile)
NM_000875.5(IGF1R):c.1925G>C (p.Ser642Thr)
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys) rs1555460702
NM_000875.5(IGF1R):c.1954C>A (p.Pro652Thr) rs1427895738
NM_000875.5(IGF1R):c.2108C>T (p.Pro703Leu)
NM_000875.5(IGF1R):c.2123A>C (p.Glu708Ala) rs2151683078
NM_000875.5(IGF1R):c.2134G>A (p.Glu712Lys) rs2151683124
NM_000875.5(IGF1R):c.2221G>A (p.Asp741Asn)
NM_000875.5(IGF1R):c.2243C>A (p.Thr748Asn)
NM_000875.5(IGF1R):c.2300A>C (p.Asp767Ala)
NM_000875.5(IGF1R):c.2632G>A (p.Glu878Lys)
NM_000875.5(IGF1R):c.2634A>C (p.Glu878Asp) rs2506039541
NM_000875.5(IGF1R):c.2663A>G (p.Tyr888Cys) rs1567202482
NM_000875.5(IGF1R):c.2674A>C (p.Lys892Gln)
NM_000875.5(IGF1R):c.2830G>A (p.Val944Ile)
NM_000875.5(IGF1R):c.2904del (p.Asn969fs) rs1555463008
NM_000875.5(IGF1R):c.2918A>G (p.Tyr973Cys) rs2506050741
NM_000875.5(IGF1R):c.2933C>T (p.Pro978Leu) rs1555463013
NM_000875.5(IGF1R):c.3029T>G (p.Phe1010Cys) rs2151707871
NM_000875.5(IGF1R):c.3334A>G (p.Met1112Val) rs2016274815
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) rs1322503729
NM_000875.5(IGF1R):c.3473G>A (p.Arg1158Gln) rs2016419800
NM_000875.5(IGF1R):c.3526G>A (p.Val1176Met) rs1238271705
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) rs1596476159
NM_000875.5(IGF1R):c.3554A>T (p.Lys1185Met) rs754505489
NM_000875.5(IGF1R):c.3692T>C (p.Leu1231Pro) rs2506091199
NM_000875.5(IGF1R):c.3923C>G (p.Ser1308Trp)
NM_000875.5(IGF1R):c.4033C>G (p.Pro1345Ala) rs1309250208
NM_000875.5(IGF1R):c.4057C>T (p.Arg1353Cys)
NM_000875.5(IGF1R):c.4065C>A (p.Asn1355Lys)
NM_000875.5(IGF1R):c.591C>G (p.Ile197Met) rs149734961
NM_000875.5(IGF1R):c.644_645insGGAGAGAGCGCG (p.Cys215delinsTrpGluArgAlaArg)
NM_000875.5(IGF1R):c.800A>G (p.Asn267Ser) rs200681134

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