ClinVar Miner

List of variants in gene IFT140 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) rs11648609 0.05163
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974 0.02675
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753 0.02347
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) rs61749517 0.02245
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355 0.02198
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993 0.01885
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390 0.01709
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_014714.4(IFT140):c.2550C>T (p.Ala850=) rs2745180 0.00615
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016

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