List of variants in gene INSR reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)	rs143523271	0.00116
NM_000208.4(INSR):c.41T>C (p.Leu14Pro)	rs745857330	0.00047
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)	rs140852238	0.00035
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)	rs76077021	0.00021
NM_000208.4(INSR):c.2698G>A (p.Val900Ile)	rs144029037	0.00020
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser)	rs121913147	0.00001
NM_000208.4(INSR):c.2456G>A (p.Arg819His)	rs1283504748	0.00001
NM_000208.4(INSR):c.3071C>T (p.Thr1024Ile)	rs780301757	0.00001
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter)	rs121913151
NM_000208.4(INSR):c.1549G>A (p.Glu517Lys)	rs1973927709
NM_000208.4(INSR):c.250A>G (p.Ile84Val)	rs772506019
NM_000208.4(INSR):c.2855C>T (p.Ser952Leu)
NM_000208.4(INSR):c.3052G>T (p.Val1018Leu)	rs2144814502
NM_000208.4(INSR):c.3094G>A (p.Gly1032Ser)	rs2512294568
NM_000208.4(INSR):c.3689_3691del (p.Thr1230del)
NM_000208.4(INSR):c.370G>A (p.Glu124Lys)
NM_000208.4(INSR):c.3955A>T (p.Met1319Leu)	rs1599863704
NM_000208.4(INSR):c.481T>C (p.Ser161Pro)
NM_000208.4(INSR):c.528A>C (p.Lys176Asn)

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