ClinVar Miner

List of variants in gene KIT reported as pathogenic for Cutaneous melanoma

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Total variants: 27
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HGVS dbSNP
NM_000222.2(KIT):c.1510T>C (p.Phe504Leu) rs1057519702
NM_000222.2(KIT):c.1650A>C (p.Lys550Asn) rs1057519703
NM_000222.2(KIT):c.1650A>T (p.Lys550Asn) rs1057519703
NM_000222.2(KIT):c.1657T>A (p.Tyr553Asn) rs1057519704
NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1674G>C (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.2(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.2(KIT):c.1679T>C (p.Val560Ala) rs121913521
NM_000222.2(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.2(KIT):c.1696A>G (p.Asn566Asp) rs1057519705
NM_000222.2(KIT):c.1706T>G (p.Val569Gly) rs1057519706
NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.1964A>G (p.Asn655Ser) rs1057519707
NM_000222.2(KIT):c.1965T>A (p.Asn655Lys) rs1057519708
NM_000222.2(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2458G>C (p.Asp820His) rs1057519710
NM_000222.2(KIT):c.2458G>T (p.Asp820Tyr) rs1057519710
NM_000222.2(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) rs1057519713

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