ClinVar Miner

List of variants in gene IGF1R reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 49
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HGVS dbSNP
NM_000875.5(IGF1R):c.1102+6T>C rs759234844
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) rs34516635
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569
NM_000875.5(IGF1R):c.1474G>A (p.Val492Ile) rs61740877
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=) rs886043360
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176
NM_000875.5(IGF1R):c.1590-20T>C rs2272037
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=)
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=) rs9282723
NM_000875.5(IGF1R):c.1723A>G (p.Thr575Ala)
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469
NM_000875.5(IGF1R):c.189C>T (p.Leu63=)
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098
NM_000875.5(IGF1R):c.1940G>A (p.Arg647His) rs1429988490
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) rs56294552
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332
NM_000875.5(IGF1R):c.1963G>A (p.Gly655Ser) rs143193096
NM_000875.5(IGF1R):c.1991C>T (p.Ser664Phe) rs751448541
NM_000875.5(IGF1R):c.2032dup (p.Ile678fs) rs1567197213
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=) rs34129005
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488
NM_000875.5(IGF1R):c.2298C>T (p.Thr766=) rs3743262
NM_000875.5(IGF1R):c.2558C>T (p.Pro853Leu)
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser) rs45611935
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) rs56400113
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) rs757589571
NM_000875.5(IGF1R):c.2782A>G (p.Thr928Ala) rs748872697
NM_000875.5(IGF1R):c.2784A>G (p.Thr928=) rs1159506275
NM_000875.5(IGF1R):c.2815G>A (p.Ala939Thr)
NM_000875.5(IGF1R):c.3091G>A (p.Ala1031Thr) rs886043535
NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=) rs2229765
NM_000875.5(IGF1R):c.3187-2A>T rs886042346
NM_000875.5(IGF1R):c.3187-5C>T rs45495500
NM_000875.5(IGF1R):c.318C>T (p.Ile106=) rs1267154320
NM_000875.5(IGF1R):c.3416G>A (p.Arg1139Gln) rs794727201
NM_000875.5(IGF1R):c.3595G>A (p.Gly1199Arg) rs886044448
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) rs34364279
NM_000875.5(IGF1R):c.3925G>A (p.Ala1309Thr) rs542567372
NM_000875.5(IGF1R):c.3984C>T (p.Gly1328=) rs794727336
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) rs141802822
NM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=) rs17847203
NM_000875.5(IGF1R):c.4054G>A (p.Gly1352Ser) rs1567223658
NM_000875.5(IGF1R):c.4058G>A (p.Arg1353His) rs149470389
NM_000875.5(IGF1R):c.4096A>C (p.Thr1366Pro) rs773129173
NM_000875.5(IGF1R):c.418dup (p.Ala140fs) rs746570875
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser) rs144739747
NM_000875.5(IGF1R):c.850A>T (p.Asn284Tyr) rs144675711
NM_000875.5(IGF1R):c.885G>T (p.Gly295=) rs56303650

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