ClinVar Miner

List of variants in gene CPT1A reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 44
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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.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.2142G>A (p.Pro714=) rs150792109 0.00081
NM_001876.4(CPT1A):c.453+9G>A rs183694834 0.00070
NM_001876.4(CPT1A):c.2142+8C>T rs147563740 0.00054
NM_001876.4(CPT1A):c.144C>T (p.Asn48=) rs182451427 0.00043
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.1983C>T (p.Tyr661=) rs374136875 0.00036
NM_001876.4(CPT1A):c.142-16G>A rs201717907 0.00027
NM_001876.4(CPT1A):c.357C>T (p.Ile119=) rs138011726 0.00015
NM_001876.4(CPT1A):c.192C>T (p.Ile64=) rs142691028 0.00010
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.2142+9G>A rs753764564 0.00005
NM_001876.4(CPT1A):c.1353-4G>A rs577271875 0.00004
NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=) rs757568196 0.00003
NM_001876.4(CPT1A):c.2235+4T>C rs755308448 0.00003
NM_001876.4(CPT1A):c.556-7A>T rs1057523637 0.00003
NM_001876.4(CPT1A):c.1575+8C>T rs372364901 0.00002
NM_001876.4(CPT1A):c.693C>T (p.Tyr231=) rs146551320 0.00001
NM_001876.4(CPT1A):c.694-9G>A rs771162679 0.00001
NM_001876.4(CPT1A):c.967+11C>G rs201996551 0.00001
NM_001876.4(CPT1A):c.-49TGCCGC[1] rs528519032
NM_001876.4(CPT1A):c.-49TGCCGC[2] rs528519032
NM_001876.4(CPT1A):c.-49TGCCGC[4] rs528519032
NM_001876.4(CPT1A):c.-49TGCCGC[5] rs528519032
NM_001876.4(CPT1A):c.1740+15C>T rs1363762969
NM_001876.4(CPT1A):c.1875+6G>A rs1555226547
NM_001876.4(CPT1A):c.282-14G>A rs1555231768
NM_001876.4(CPT1A):c.555+155del rs11311321
NM_001876.4(CPT1A):c.771+13G>A rs996371611
NM_001876.4(CPT1A):c.771+17G>C rs201034164

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