ClinVar Miner

Variants in gene MERTK with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln) rs753693755 0.00002
NM_006343.3(MERTK):c.1938C>T (p.His646=) rs1309440527 0.00001
NM_006343.3(MERTK):c.584-5C>T rs747835003 0.00001
NM_006343.3(MERTK):c.1961-4dup rs772574056
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084

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