ClinVar Miner

List of variants in gene CPT2 reported as benign by GeneDx

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NC_000001.11:g.53196294G>A rs10888776 0.45575
NM_000098.3(CPT2):c.153-283T>C rs12754957 0.25450
NM_000098.3(CPT2):c.341-155T>C rs12737375 0.25426
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_000098.3(CPT2):c.340+122T>A rs145446223 0.02297
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.340+121G>A rs729227 0.00462
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.*22A>T rs115408040 0.00446
NM_000098.3(CPT2):c.*75T>C rs6702020 0.00446
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.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000098.3(CPT2):c.1645+292_1645+299del rs112026378
NM_000098.3(CPT2):c.340+120C>T rs41294754

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