ClinVar Miner

List of variants in gene CPT1A reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1575+533_1575+534del rs1169875761
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.948del (p.Ile317fs) rs80356800

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