ClinVar Miner

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

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1540+2T>C rs760183633 0.00001
NC_000004.11:g.(?_55569880)_(55575715_?)dup
NC_000004.11:g.(?_55569966)_(55570700_?)del
NC_000004.11:g.(?_55575570)_(55598184_?)dup
NM_000222.3(KIT):c.1232-1G>A rs55737343
NM_000222.3(KIT):c.1540+1G>A rs2109769912
NM_000222.3(KIT):c.1540+1G>T
NM_000222.3(KIT):c.1540+2del
NM_000222.3(KIT):c.1541-1G>A rs2109773622
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.1669T>A (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly) rs121913235
NM_000222.3(KIT):c.1669_1674del (p.Trp557_Lys558del) rs869025568
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.3(KIT):c.1670_1671delinsTT (p.Trp557Phe) rs1057520035
NM_000222.3(KIT):c.1671G>C (p.Trp557Cys) rs1057520033
NM_000222.3(KIT):c.1672A>C (p.Lys558Gln) rs1057520031
NM_000222.3(KIT):c.1672A>G (p.Lys558Glu) rs1057520031
NM_000222.3(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.3(KIT):c.1676_1720del (p.Val559_Thr574delinsAla) rs1560417535
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.3(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.3(KIT):c.1679_1680inv (p.Val560Glu)
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
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.3(KIT):c.1774+1G>T
NM_000222.3(KIT):c.1775-2A>G rs1577995761
NM_000222.3(KIT):c.1823C>A (p.Ala608Asp)
NM_000222.3(KIT):c.1879+1G>A rs794726675
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.3(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.3(KIT):c.2142-1G>A
NM_000222.3(KIT):c.2362-1G>A rs1578003055
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2467T>G (p.Tyr823Asp) rs1057519761
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.3(KIT):c.2494C>T (p.Pro832Ser)
NM_000222.3(KIT):c.2515G>A (p.Glu839Lys) rs121913509
NM_000222.3(KIT):c.2648T>C (p.Ile883Thr)
NM_000222.3(KIT):c.757-1G>A rs2109692864
NM_000222.3(KIT):c.757-2A>T
NM_000222.3(KIT):c.840_925+649del rs1720606396

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