List of variants in gene CPT1A reported as likely benign for not provided

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.1352+254C>A	rs141515543	0.03162
NM_001876.4(CPT1A):c.772-289A>G	rs72943250	0.02263
NM_001031847.3(CPT1A):c.*68A>G	rs75022915	0.02067
NM_001876.4(CPT1A):c.772-33A>G	rs79345832	0.01230
NM_001876.4(CPT1A):c.2235+178A>G	rs111558940	0.01070
NM_001876.4(CPT1A):c.694-193C>A	rs76665818	0.01054
NM_001876.4(CPT1A):c.967+37G>T	rs75425407	0.01028
NM_001876.4(CPT1A):c.454-71G>A	rs150933207	0.00564
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	rs140958507	0.00501
NM_001876.4(CPT1A):c.693+259A>T	rs144215279	0.00464
NM_001876.4(CPT1A):c.880-233T>C	rs186788807	0.00419
NM_001876.4(CPT1A):c.2143-87G>A	rs149713631	0.00359
NM_001876.4(CPT1A):c.771+31C>T	rs114802513	0.00345
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)	rs61731903	0.00262
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)	rs151271754	0.00205
NM_001876.4(CPT1A):c.2142+8C>T	rs147563740	0.00054
NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)	rs144781827	0.00041
NM_001876.4(CPT1A):c.555+156C>T	rs796173043	0.00038
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)	rs61731905	0.00016
NM_001876.4(CPT1A):c.694-10C>T	rs201198921	0.00007
NM_001876.4(CPT1A):c.1353-27A>C	rs376706366	0.00005
NM_001876.4(CPT1A):c.1392C>T (p.Asn464=)	rs138700687	0.00005
NM_001876.4(CPT1A):c.741G>A (p.Pro247=)	rs1034760579	0.00003
NM_001876.4(CPT1A):c.967+11C>G	rs201996551	0.00001
NM_001876.4(CPT1A):c.507A>G (p.Thr169=)	rs547886138
NM_001876.4(CPT1A):c.555+155del	rs11311321

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.