ClinVar Miner

List of variants in gene IGF1R reported as likely pathogenic

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.1997-6G>A rs750280055 0.00001
GRCh37/hg19 15q26.3(chr15:98982492-99411100)x1
GRCh37/hg19 15q26.3(chr15:99467707-99507214)x1
NM_000875.5(IGF1R):c.118C>T (p.Arg40Cys) rs1596214066
NM_000875.5(IGF1R):c.1447G>A (p.Gly483Arg)
NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr) rs2015098252
NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu) rs1131691583
NM_000875.5(IGF1R):c.1906_1907dup (p.Pro637fs) rs2151681264
NM_000875.5(IGF1R):c.2128_2139del (p.Gln710_Lys713del)
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter) rs1173681603
NM_000875.5(IGF1R):c.2684_2692del (p.Arg895_Asn897del) rs2151694492
NM_000875.5(IGF1R):c.2881_2884del (p.Lys961fs)
NM_000875.5(IGF1R):c.3087_3088del (p.Arg1029fs) rs1596468621
NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs)
NM_000875.5(IGF1R):c.3162G>A (p.Met1054Ile) rs1596468719
NM_000875.5(IGF1R):c.3187-2A>G
NM_000875.5(IGF1R):c.3187-2A>T rs886042346
NM_000875.5(IGF1R):c.323del (p.Gly108fs) rs1064793151
NM_000875.5(IGF1R):c.3454G>A (p.Gly1152Arg) rs1596472892
NM_000875.5(IGF1R):c.3457+1dup
NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp) rs1596476061
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) rs1596476159
NM_000875.5(IGF1R):c.3539C>A (p.Ser1180Tyr) rs1596476163
NM_000875.5(IGF1R):c.3578C>G (p.Ser1193Trp)
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys) rs1555434208
NM_000875.5(IGF1R):c.3679G>T (p.Glu1227Ter)
NM_000875.5(IGF1R):c.824G>A (p.Arg275His) rs1250642880

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