ClinVar Miner

List of variants in gene IGF1R reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys) rs1555460702
NM_000875.5(IGF1R):c.2904del (p.Asn969fs) rs1555463008
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) rs1322503729

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