ClinVar Miner

List of variants in gene IGF1R reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) rs141802822 0.00067
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469 0.00064
NM_000875.5(IGF1R):c.2258G>A (p.Arg753Gln) rs987303175 0.00006
NM_000875.5(IGF1R):c.3979A>G (p.Asn1327Asp) rs374710491 0.00004
NM_000875.5(IGF1R):c.1372G>A (p.Glu458Lys) rs771228557 0.00001
NM_000875.5(IGF1R):c.190A>G (p.Ile64Val) rs372975602 0.00001
NM_000875.5(IGF1R):c.3964G>A (p.Gly1322Arg) rs779104996 0.00001
NM_000875.5(IGF1R):c.419C>T (p.Ala140Val) rs926370406 0.00001
NM_000875.5(IGF1R):c.817G>A (p.Gly273Ser) rs1269644208 0.00001
NM_000875.5(IGF1R):c.1103-6A>G
NM_000875.5(IGF1R):c.1381C>T (p.Arg461Cys)
NM_000875.5(IGF1R):c.1447G>T (p.Gly483Trp)
NM_000875.5(IGF1R):c.1464T>G (p.Cys488Trp) rs2151674130
NM_000875.5(IGF1R):c.1589C>T (p.Ala530Val)
NM_000875.5(IGF1R):c.1609G>A (p.Glu537Lys) rs2151676820
NM_000875.5(IGF1R):c.1643G>C (p.Ser548Thr)
NM_000875.5(IGF1R):c.1669C>T (p.Pro557Ser) rs532511373
NM_000875.5(IGF1R):c.1698_1703dup (p.Leu568_His569insLeuLeu)
NM_000875.5(IGF1R):c.1948C>T (p.Arg650Trp)
NM_000875.5(IGF1R):c.208T>G (p.Tyr70Asp)
NM_000875.5(IGF1R):c.2092C>A (p.Pro698Thr) rs2151682932
NM_000875.5(IGF1R):c.212G>A (p.Arg71His)
NM_000875.5(IGF1R):c.2131G>A (p.Ala711Thr)
NM_000875.5(IGF1R):c.2252C>T (p.Ser751Phe) rs2151690713
NM_000875.5(IGF1R):c.2362A>G (p.Thr788Ala)
NM_000875.5(IGF1R):c.2398C>T (p.Arg800Cys)
NM_000875.5(IGF1R):c.2579G>A (p.Gly860Glu) rs2151693458
NM_000875.5(IGF1R):c.2638G>T (p.Val880Leu)
NM_000875.5(IGF1R):c.2756C>A (p.Pro919His) rs2015633715
NM_000875.5(IGF1R):c.280G>A (p.Glu94Lys)
NM_000875.5(IGF1R):c.2987G>A (p.Arg996Gln) rs750083612
NM_000875.5(IGF1R):c.3022G>A (p.Gly1008Arg)
NM_000875.5(IGF1R):c.3031G>C (p.Gly1011Arg)
NM_000875.5(IGF1R):c.3091G>A (p.Ala1031Thr) rs886043535
NM_000875.5(IGF1R):c.3160A>G (p.Met1054Val) rs2151708106
NM_000875.5(IGF1R):c.3415C>T (p.Arg1139Trp) rs1596472846
NM_000875.5(IGF1R):c.3488C>T (p.Thr1163Ile)
NM_000875.5(IGF1R):c.3523C>T (p.Pro1175Ser)
NM_000875.5(IGF1R):c.358T>G (p.Phe120Val) rs1555434205
NM_000875.5(IGF1R):c.3652A>G (p.Asn1218Asp)
NM_000875.5(IGF1R):c.3722+5G>A rs2016652547
NM_000875.5(IGF1R):c.3766A>T (p.Arg1256Trp) rs2151737858
NM_000875.5(IGF1R):c.3776_3779dup (p.Glu1261fs)
NM_000875.5(IGF1R):c.3778C>A (p.Leu1260Met)
NM_000875.5(IGF1R):c.379G>A (p.Asp127Asn) rs1436887637
NM_000875.5(IGF1R):c.3899T>C (p.Met1300Thr)
NM_000875.5(IGF1R):c.3938C>T (p.Ser1313Phe)
NM_000875.5(IGF1R):c.4065C>G (p.Asn1355Lys)
NM_000875.5(IGF1R):c.4072G>C (p.Ala1358Pro) rs771590506
NM_000875.5(IGF1R):c.4079C>G (p.Pro1360Arg) rs779623011
NM_000875.5(IGF1R):c.4098CTG[1] (p.Cys1367del)
NM_000875.5(IGF1R):c.436A>G (p.Asn146Asp) rs2141259608
NM_000875.5(IGF1R):c.596A>C (p.Asn199Thr) rs2053907780
NM_000875.5(IGF1R):c.818G>T (p.Gly273Val)
NM_000875.5(IGF1R):c.824G>A (p.Arg275His) rs1250642880

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