ClinVar Miner

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

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_031433.4(MFRP):c.428-2A>G rs986503217
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288

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