ClinVar Miner

List of variants in gene KIT reported by OMIM

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Total variants: 27
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HGVS dbSNP
KIT, 15-BP DEL AND LYS550ILE
KIT, ASN822ILE
KIT, DEL
NM_000222.2(KIT):c.1598C>A (p.Ala533Asp) rs753212327
NM_000222.2(KIT):c.1648_1674del rs121913234
NM_000222.2(KIT):c.1652_1666del (p.Pro551_Val555del) rs587776804
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.1676_1678TTG[1] (p.Val560del) rs121913685
NM_000222.2(KIT):c.1676_1681del (p.Val559_Val560del) rs121913685
NM_000222.2(KIT):c.1681dup (p.Glu561fs) rs794726673
NM_000222.2(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.2(KIT):c.1751T>G (p.Phe584Cys) rs28933371
NM_000222.2(KIT):c.1752T>G (p.Phe584Leu) rs794726671
NM_000222.2(KIT):c.1859T>C (p.Val620Ala) rs387907217
NM_000222.2(KIT):c.1879+1G>A rs794726675
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1925_1926del (p.Lys642fs) rs794726672
NM_000222.2(KIT):c.1990G>A (p.Gly664Arg) rs121913679
NM_000222.2(KIT):c.2386A>G (p.Arg796Gly) rs121913684
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>G (p.Asp820Gly) rs121913682
NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) rs121913509
NM_000222.2(KIT):c.2539A>C (p.Thr847Pro) rs121913687
NM_000222.2(KIT):c.253del (p.Glu85fs) rs794726674

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