ClinVar Miner

Variants in gene combination C1QTNF5, MFRP with conflicting interpretations reported as "pathogenic and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.642-2A>G rs376898612 0.00006
NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp) rs730882144 0.00001
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471

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