ClinVar Miner

List of variants in gene combination IGF1R, IRAIN reported by Invitae

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.94+14C>T rs35275105 0.01058
NM_000875.5(IGF1R):c.15C>T (p.Ser5=) rs34226328 0.00350
NM_000875.5(IGF1R):c.16G>A (p.Gly6Arg) rs199652097 0.00015
NM_000875.5(IGF1R):c.84G>A (p.Thr28=) rs372748482 0.00013
NM_000875.5(IGF1R):c.75C>T (p.Leu25=) rs749920743 0.00002
NM_000875.5(IGF1R):c.94+7A>G rs201544675 0.00001
NM_000875.5(IGF1R):c.28C>T (p.Pro10Ser)
NM_000875.5(IGF1R):c.45del (p.Leu16fs)
NM_000875.5(IGF1R):c.48C>A (p.Leu16=)
NM_000875.5(IGF1R):c.55C>T (p.Leu19Phe)
NM_000875.5(IGF1R):c.59C>T (p.Ser20Phe)
NM_000875.5(IGF1R):c.60C>T (p.Ser20=)
NM_000875.5(IGF1R):c.71C>T (p.Ser24Leu) rs1013771934
NM_000875.5(IGF1R):c.80C>T (p.Pro27Leu)
NM_000875.5(IGF1R):c.94+10_94+11del
NM_000875.5(IGF1R):c.94+15G>A
NM_000875.5(IGF1R):c.94+3_94+6del

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