ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36773
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23834
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 0.02244
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02054
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.492-20C>T rs149012740 0.00267
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00194
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00122
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00115
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00103
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg) rs182052267 0.00061
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
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.1422A>G (p.Ile474Met) rs559293157 0.00014
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) rs778020037 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00001
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350

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