ClinVar Miner

Variants in gene IFT140 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_014714.4(IFT140):c.*2G>A rs144879630
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417

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