ClinVar Miner

List of variants in gene IFT140, LOC105371046 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.-17G>C rs1894649
NM_014714.4(IFT140):c.-4C>T rs140403660
NM_014714.4(IFT140):c.-6T>A rs886051771
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1010-1G>A rs770185023
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223
NM_014714.4(IFT140):c.1155+15G>A rs764275810
NM_014714.4(IFT140):c.1167del (p.Lys390fs) rs1085307074
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532
NM_014714.4(IFT140):c.1360-14G>A rs369246649
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln) rs776789813
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.22C>G (p.Gln8Glu) rs145267929
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421
NM_014714.4(IFT140):c.304C>T (p.His102Tyr)
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200
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.491+7G>A rs187521755
NM_014714.4(IFT140):c.492-14G>A rs75359189
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.635-12G>C rs12447357
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373
NM_014714.4(IFT140):c.853_856TTGA[1] (p.Ile286fs) rs431905506
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.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123

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