ClinVar Miner

List of variants in gene CPT2 reported as uncertain significance by Counsyl

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) rs1131691925 0.00002
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) rs28936376 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.1360_1362del (p.Glu454del) rs1553169768
NM_000098.3(CPT2):c.1404G>T (p.Gln468His) rs140771069
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) rs1553170006
NM_000098.3(CPT2):c.1952T>G (p.Leu651Ter) rs1553170035
NM_000098.3(CPT2):c.1973_1975del (p.Ser658_Ter659delinsLys) rs1553170038
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080

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