ClinVar Miner

Variants in gene KIT with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly) rs121913235
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514

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