ClinVar Miner

List of variants in gene KIT reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1279C>T (p.Gln427Ter) rs1306680919
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000222.3(KIT):c.2422A>T (p.Ile808Phe)
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_000222.3(KIT):c.406T>C (p.Cys136Arg) rs1720223149

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