ClinVar Miner

List of variants in gene KIT reported as likely pathogenic by Database of Curated Mutations (DoCM)

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Total variants: 35
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HGVS dbSNP
NM_000222.2(KIT):c.154G>A (p.Asp52Asn) rs121913505
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.1669T>G (p.Trp557Gly) rs121913235
NM_000222.2(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.2(KIT):c.1670_1671delGGinsTT (p.Trp557Phe) rs1057520035
NM_000222.2(KIT):c.1671G>C (p.Trp557Cys) rs1057520033
NM_000222.2(KIT):c.1672A>C (p.Lys558Gln) rs1057520031
NM_000222.2(KIT):c.1672A>G (p.Lys558Glu) rs1057520031
NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676T>C (p.Val559Ala) 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>G (p.Val560Gly) rs121913521
NM_000222.2(KIT):c.1679_1680delTTinsAA (p.Val560Glu) rs1057520034
NM_000222.2(KIT):c.1679_1681del (p.Val560del) rs121913685
NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1926A>C (p.Lys642Asn) rs1057519907
NM_000222.2(KIT):c.1961T>A (p.Val654Glu) rs121913523
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2459A>T (p.Asp820Val) rs121913682
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.2467T>G (p.Tyr823Asp) rs1057519761
NM_000222.2(KIT):c.2474T>C (p.Val825Ala) rs121913524
NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) rs121913509

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