ClinVar Miner

List of variants in gene IGF1R reported as uncertain significance for Inborn genetic diseases

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.4066G>A (p.Glu1356Lys) rs746562843 0.00011
NM_000875.5(IGF1R):c.4096A>C (p.Thr1366Pro) rs773129173 0.00010
NM_000875.5(IGF1R):c.2077G>A (p.Gly693Ser) rs375617925 0.00006
NM_000875.5(IGF1R):c.1868C>G (p.Ser623Cys) rs886051560 0.00001
NM_000875.5(IGF1R):c.3685G>A (p.Gly1229Ser) rs368518102 0.00001
NM_000875.5(IGF1R):c.1693G>A (p.Gly565Ser)
NM_000875.5(IGF1R):c.2078G>A (p.Gly693Asp)
NM_000875.5(IGF1R):c.2123A>C (p.Glu708Ala)
NM_000875.5(IGF1R):c.2134G>A (p.Glu712Lys)
NM_000875.5(IGF1R):c.2663A>G (p.Tyr888Cys)
NM_000875.5(IGF1R):c.2918A>G (p.Tyr973Cys)
NM_000875.5(IGF1R):c.2933C>T (p.Pro978Leu) rs1555463013
NM_000875.5(IGF1R):c.3029T>G (p.Phe1010Cys)
NM_000875.5(IGF1R):c.3307G>A (p.Val1103Ile)
NM_000875.5(IGF1R):c.3334A>G (p.Met1112Val)
NM_000875.5(IGF1R):c.3526G>A (p.Val1176Met) rs1238271705
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) rs1596476159
NM_000875.5(IGF1R):c.3668G>A (p.Arg1223His)
NM_000875.5(IGF1R):c.3709T>A (p.Cys1237Ser)
NM_000875.5(IGF1R):c.3757C>A (p.Pro1253Thr)
NM_000875.5(IGF1R):c.4033C>G (p.Pro1345Ala)
NM_000875.5(IGF1R):c.591C>G (p.Ile197Met)
NM_000875.5(IGF1R):c.722C>T (p.Ala241Val)
NM_000875.5(IGF1R):c.736A>G (p.Thr246Ala)
NM_000875.5(IGF1R):c.800A>G (p.Asn267Ser)

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