ClinVar Miner

List of variants in gene CPT2 reported as likely benign by GeneDx

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.53196246C>G rs143388468 0.00453
NM_000098.3(CPT2):c.152+182C>T rs116571455 0.00446
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000098.3(CPT2):c.1518C>T (p.Ser506=) rs140798841 0.00011
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642 0.00010
NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) rs373714948 0.00003
NM_000098.3(CPT2):c.870C>T (p.Tyr290=) rs202145705 0.00003
NM_000098.3(CPT2):c.1263T>C (p.Asp421=) rs749714778 0.00002
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000098.3(CPT2):c.876C>T (p.Thr292=) rs1179793805 0.00001
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1645+128A>C rs80332673
NM_000098.3(CPT2):c.1645+212G>A rs115905875
NM_000098.3(CPT2):c.1645+299dup rs112026378
NM_000098.3(CPT2):c.1646-11G>A rs781302472
NM_000098.3(CPT2):c.340+18T>A rs1553169114
NM_000098.3(CPT2):c.340+20G>A rs369737473
NM_000098.3(CPT2):c.341-16dup rs749177082
NM_000098.3(CPT2):c.495A>T (p.Thr165=) rs1057523519
NM_000098.3(CPT2):c.606T>C (p.Tyr202=) rs755830520

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