ClinVar Miner

List of variants in gene IGF1R reported as pathogenic

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Total variants: 8
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HGVS dbSNP
NM_000875.5(IGF1R):c.1590-1G>C rs1057524426
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys) rs1555460702
NM_000875.5(IGF1R):c.2032dup (p.Ile678fs) rs1567197213
NM_000875.5(IGF1R):c.2578G>T (p.Gly860Ter) rs1555462145
NM_000875.5(IGF1R):c.2673del (p.Lys892fs)
NM_000875.5(IGF1R):c.2904del (p.Asn969fs) rs1555463008
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) rs1322503729
NM_000875.5(IGF1R):c.418dup (p.Ala140fs) rs746570875

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