ClinVar Miner

List of variants in gene CPT2 reported by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) rs28936376 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
CPT2, 11-BP DUP, NT997
NM_000098.2(CPT2):c.[1055T>G;1102G>A]
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) rs74315299
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.234-1G>A rs1557713988
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.638A>G (p.Asp213Gly) rs74315300

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