ClinVar Miner

List of variants in gene CPT2 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292 0.02118
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000098.3(CPT2):c.341-16T>C rs180830030 0.00176
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys) rs151003641 0.00025
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu) rs776754218 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) rs368132822 0.00002
NM_000098.3(CPT2):c.461A>G (p.Asn154Ser) rs772269793 0.00001
NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) rs758823353 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1547T>C (p.Phe516Ser) rs398123154
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888

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