ClinVar Miner

List of variants in gene IGF1R reported as pathogenic for Growth delay due to insulin-like growth factor I resistance

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.1247+1dup rs1596413181
NM_000875.5(IGF1R):c.1464T>G (p.Cys488Trp) rs2151674130
NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs) rs2151690905
NM_000875.5(IGF1R):c.3454G>A (p.Gly1152Arg) rs1596472892
NM_000875.5(IGF1R):c.384T>C (p.Ile128=) rs1596214576
NM_000875.5(IGF1R):c.904G>T (p.Glu302Ter) rs774794966

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