ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325
NM_014714.4(IFT140):c.4040+10C>T rs138364426

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