ClinVar Miner

List of variants in gene KIT reported as pathogenic for Gastrointestinal stroma tumor

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Total variants: 14
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HGVS dbSNP
KIT, 15-BP DEL AND LYS550ILE
NC_000004.11:g.(?_55524176)_(55604729_?)del
NM_000222.2(KIT):c.108_109insT (p.Pro37fs) rs1553887262
NM_000222.2(KIT):c.1526A>T (p.Lys509Ile)
NM_000222.2(KIT):c.1648_1674del rs121913234
NM_000222.2(KIT):c.1652_1666del (p.Pro551_Val555del) rs587776804
NM_000222.2(KIT):c.1670G>A (p.Trp557Ter) rs1057520032
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676_1681del (p.Val559_Val560del) rs121913685
NM_000222.2(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000222.2(KIT):c.2152_2153del (p.Ser717_Thr718insTer) rs1560420761
NM_000222.2(KIT):c.2454del (p.Asn819fs) rs1060502521
NM_000222.2(KIT):c.389del (p.Asn130fs) rs1560395607
NM_000222.2(KIT):c.753_756del (p.Ser251fs) rs1553887960

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