ClinVar Miner

Variants in gene CPT2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
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.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
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.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.1851T>C (p.His617=) rs540322467 0.00001

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