ClinVar Miner

Variants in gene MERTK 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: 2
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs) rs1342715176

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