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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.546C>T (p.Asp182=)	rs150014480	0.00120
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)	rs141993139	0.00081
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.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.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.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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