ClinVar Miner

List of variants reported for Growth delay due to insulin-like growth factor I resistance by Revvity Omics, Revvity

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_000875.5(IGF1R):c.1247+3A>G rs55895813 0.00052
NM_000875.5(IGF1R):c.1401G>A (p.Gly467=) rs202060277 0.00006
NM_000875.5(IGF1R):c.4024G>A (p.Glu1342Lys) rs1442885994 0.00002
NM_000875.5(IGF1R):c.733G>A (p.Asp245Asn) rs1361565953 0.00002
NM_000875.5(IGF1R):c.1814G>A (p.Arg605His) rs45553041 0.00001
NM_000875.5(IGF1R):c.3932C>T (p.Ser1311Leu) rs771642071 0.00001
NM_000875.5(IGF1R):c.665G>A (p.Arg222Gln) rs199789940 0.00001
NM_000875.5(IGF1R):c.2653T>C (p.Tyr885His) rs2506039595
NM_000875.5(IGF1R):c.3469A>G (p.Thr1157Ala) rs2506077521
NM_000875.5(IGF1R):c.3952G>A (p.Asp1318Asn) rs138696883
NM_000875.5(IGF1R):c.4087C>T (p.Gln1363Ter) rs1483167529
NM_000875.5(IGF1R):c.628C>T (p.Arg210Cys) rs1345546886

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