ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported by Illumina Laboratory Services, Illumina

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532 0.02699
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02409
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02210
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.-6T>A rs886051771 0.00001
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) rs756882000 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.-24C>G rs373009406
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) rs1339640657
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767

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