List of variants in gene CPT1A reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)	rs77477448	0.00093
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)	rs114030714	0.00081
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu)	rs41302429	0.00029
NM_001876.4(CPT1A):c.851G>A (p.Arg284His)	rs144866081	0.00017
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser)	rs555444012	0.00016
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)	rs1165511243	0.00001
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys)	rs780487379	0.00001
NM_001876.4(CPT1A):c.1129G>A (p.Glu377Lys)	rs1566357386
NM_001876.4(CPT1A):c.1467G>A (p.Met489Ile)	rs794727096
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)	rs147389938
NM_001876.4(CPT1A):c.2246G>T (p.Arg749Leu)

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