ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
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.1372A>C (p.Lys458Gln) rs147276580
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.1448T>C (p.Val483Ala) rs1324631593
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996
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.1892G>A (p.Arg631His) rs1009503062
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.236A>C (p.Lys79Thr) rs150888506
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) rs1131691925
NM_000098.3(CPT2):c.379G>A (p.Val127Ile)
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.416C>T (p.Pro139Leu) rs369475478
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921
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.846C>T (p.Pro282=) rs138855128
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257
NM_000098.3(CPT2):c.99G>C (p.Gln33His) rs1196469539

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.