ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1652_1672del (p.Pro551_Lys558delinsGln) rs1560417385
NM_000222.3(KIT):c.1653_1660delinsAA (p.Met552_Glu554delinsLys) rs1560417396
NM_000222.3(KIT):c.1665_1672delinsCC (p.Trp557_Lys558del) rs1560417427
NM_000222.3(KIT):c.1668_1686del (p.Gln556_Trp557insTer) rs1560417438
NM_000222.3(KIT):c.1676_1720del (p.Val559_Thr574delinsAla) rs1560417535
NM_000222.3(KIT):c.1715_1756dup (p.Pro585_Arg586insAsnProThrGlnLeuProTyrAspHisLysTrpGluPhePro) rs1560417642
NM_000222.3(KIT):c.1721_1765dup (p.Arg588_Leu589insProGlnLeuProTyrAspHisLysTrpGluPheProArgAsnArg) rs1560417666
NM_000222.3(KIT):c.1722_1766dup (p.Gln575_Leu589dup) rs1560417673

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