ClinVar Miner

List of variants in gene CPT2 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.1223_1224del (p.Ser408fs) rs752373512
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729

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