ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993
NM_014714.4(IFT140):c.2550C>T (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) rs61749517

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