ClinVar Miner

List of variants in gene CPT1A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1353-47G>T rs3019576 0.92001
NM_001876.4(CPT1A):c.454-208C>T rs2924674 0.91736
NM_001876.4(CPT1A):c.1352+220A>G rs4261294 0.91564
NM_001876.4(CPT1A):c.1876-203G>A rs3019597 0.86196
NM_001876.4(CPT1A):c.1876-223G>C rs897048 0.75109
NM_001876.4(CPT1A):c.2142+93C>T rs3019598 0.35902
NC_000011.10:g.68754585G>A rs3018712 0.14685
NM_001876.4(CPT1A):c.880-134A>C rs3763830 0.13363
NM_001876.4(CPT1A):c.880-261T>C rs11228357 0.13329
NM_001876.4(CPT1A):c.281+310G>C rs2278906 0.12767
NM_001876.4(CPT1A):c.1741-28G>A rs2924699 0.12427
NM_001876.4(CPT1A):c.281+266G>A rs2278905 0.10048
NM_001876.4(CPT1A):c.694-272G>A rs7925592 0.08661
NM_001876.4(CPT1A):c.282-71C>T rs41302431 0.03751
NM_001876.4(CPT1A):c.555+156del rs60624953 0.03627
NM_001876.4(CPT1A):c.1352+254C>A rs141515543 0.03162
NM_001876.4(CPT1A):c.454-222G>C rs58382550 0.02493
NM_001876.4(CPT1A):c.454-162A>G rs58341713 0.02392
NM_001876.4(CPT1A):c.772-289A>G rs72943250 0.02263
NM_001876.4(CPT1A):c.453+166A>C rs7108728 0.02165
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.282-236G>A rs148206888 0.00898
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.853A>C (p.Lys285Gln) rs77477448 0.00093
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
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.1876G>C (p.Val626Leu) rs41302429 0.00029
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905 0.00016
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser) rs555444012 0.00016
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=) rs199640034 0.00010
NM_001876.4(CPT1A):c.694-10C>T rs201198921 0.00007
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
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.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001876.4(CPT1A):c.741G>A (p.Pro247=) rs1034760579 0.00003
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_001876.4(CPT1A):c.136T>C (p.Phe46Leu) rs769222168 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu) rs1249954316 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.281+1G>A rs191107774 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775 0.00001
NM_001876.4(CPT1A):c.407T>C (p.Met136Thr) rs1205599161 0.00001
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=) rs139789100 0.00001
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys) rs759188040 0.00001
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys) rs780487379 0.00001
NM_001876.4(CPT1A):c.967+11C>G rs201996551 0.00001
NM_001876.4(CPT1A):c.1002_1003insT (p.Val335fs) rs1566357672
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile) rs1432015707
NM_001876.4(CPT1A):c.1129G>A (p.Glu377Lys) rs1566357386
NM_001876.4(CPT1A):c.1353-255C>T rs11228349
NM_001876.4(CPT1A):c.1394G>A (p.Gly465Glu) rs761944958
NM_001876.4(CPT1A):c.1467G>A (p.Met489Ile) rs794727096
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp) rs1566348991
NM_001876.4(CPT1A):c.1741-89G>T rs7112615
NM_001876.4(CPT1A):c.1876-256dup rs5792450
NM_001876.4(CPT1A):c.194T>C (p.Val65Ala) rs727503886
NM_001876.4(CPT1A):c.1966C>G (p.His656Asp) rs1405682081
NM_001876.4(CPT1A):c.1993A>G (p.Lys665Glu) rs1566339751
NM_001876.4(CPT1A):c.2143-225GT[8] rs34518934
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.2236-1G>T rs1555226004
NM_001876.4(CPT1A):c.2246G>T (p.Arg749Leu)
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.507A>G (p.Thr169=) rs547886138
NM_001876.4(CPT1A):c.548_549del (p.Val183fs) rs886042250
NM_001876.4(CPT1A):c.555+155del rs11311321
NM_001876.4(CPT1A):c.555+157_555+158del rs146360664
NM_001876.4(CPT1A):c.555+243ATTTT[11] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[12] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[6] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[7] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[8] rs59753299
NM_001876.4(CPT1A):c.693+34_693+35insAGCG rs371123694
NM_001876.4(CPT1A):c.693+36T>C rs61887063
NM_001876.4(CPT1A):c.693+37T>C rs61887062
NM_001876.4(CPT1A):c.771+80del rs141474465
NM_001876.4(CPT1A):c.967+243ATTT[5] rs10591978

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.