ClinVar Miner

List of variants in gene CPT1A reported as likely benign for CPT1A-related condition

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Total variants: 20
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HGVS dbSNP gnomAD frequency
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.2142G>A (p.Pro714=) rs150792109 0.00081
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_001876.4(CPT1A):c.453+9G>A rs183694834 0.00070
NM_001876.4(CPT1A):c.144C>T (p.Asn48=) rs182451427 0.00043
NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=) rs374136875 0.00036
NM_001876.4(CPT1A):c.492G>A (p.Leu164=) rs200836324 0.00034
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905 0.00016
NM_001876.4(CPT1A):c.357C>T (p.Ile119=) rs138011726 0.00015
NM_001876.4(CPT1A):c.694-10C>T rs201198921 0.00007
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=) rs144747588 0.00006
NM_001876.4(CPT1A):c.633C>T (p.Val211=) rs775908039 0.00005
NM_001876.4(CPT1A):c.694-5A>G rs533087846 0.00003
NM_001876.4(CPT1A):c.51C>T (p.Asp17=) rs750719349 0.00002
NM_001876.4(CPT1A):c.1767C>T (p.Tyr589=) rs762044597 0.00001
NM_001876.4(CPT1A):c.1806G>A (p.Thr602=) rs866075317 0.00001
NM_001876.4(CPT1A):c.2001C>T (p.Leu667=) rs370172029 0.00001
NM_001876.4(CPT1A):c.1163+5G>A rs140999795
NM_001876.4(CPT1A):c.142-10C>T

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