List of variants in gene IGF1R reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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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.148G>T (p.Glu50Ter)
NM_000875.5(IGF1R):c.1590-1G>C	rs1057524426
NM_000875.5(IGF1R):c.1722G>A (p.Trp574Ter)
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys)	rs1555460702
NM_000875.5(IGF1R):c.2032dup (p.Ile678fs)	rs1567197213
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter)	rs1173681603
NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs)	rs2151690905
NM_000875.5(IGF1R):c.2578G>T (p.Gly860Ter)	rs1555462145
NM_000875.5(IGF1R):c.2673del (p.Lys892fs)	rs1596457128
NM_000875.5(IGF1R):c.2904del (p.Asn969fs)	rs1555463008
NM_000875.5(IGF1R):c.2984_2986delinsG (p.Ala995fs)	rs2016082493
NM_000875.5(IGF1R):c.3038del (p.Val1013fs)
NM_000875.5(IGF1R):c.3190C>T (p.Arg1064Ter)
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs)	rs1322503729
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.418dup (p.Ala140fs)	rs746570875
NM_000875.5(IGF1R):c.641-2A>G
NM_000875.5(IGF1R):c.904G>T (p.Glu302Ter)	rs774794966

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