ClinVar Miner

List of variants reported as uncertain significance for carnitine palmitoyl transferase II deficiency, severe infantile form by Counsyl

Included ClinVar conditions (3):
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Total variants: 20
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HGVS dbSNP
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
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.1438G>A (p.Gly480Arg) rs201508063
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) rs28936376
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641
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.371G>A (p.Arg124Gln) rs1131691925
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691
NM_000098.3(CPT2):c.62C>A (p.Pro21His) rs1399429530
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257
NM_000098.3(CPT2):c.99G>C (p.Gln33His) rs1196469539

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