ClinVar Miner

List of variants in gene INSR reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_000208.4(INSR):c.1483+31T>C rs2860178 0.52842
NM_000208.4(INSR):c.1862-20A>G rs2245648 0.26534
NM_000208.4(INSR):c.1610+28A>C rs2860177 0.24043
NM_000208.4(INSR):c.1861+27C>T rs3815902 0.21056
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_000208.4(INSR):c.2267+17C>T rs41509747 0.04450
NM_000208.4(INSR):c.2231+20C>A rs6413502 0.03725
NM_000208.4(INSR):c.1123+21G>A rs13306458 0.03006
NM_000208.4(INSR):c.1610+23C>T rs9676400 0.02818
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000208.4(INSR):c.3259-31C>T rs148813626 0.00848
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.2842+33G>A rs35169098
NM_000208.4(INSR):c.653-23TC[9] rs3835070

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