List of variants in gene combination CPT1A, LOC126861244 reported as uncertain significance for Carnitine palmitoyl transferase 1A deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)	rs757593086	0.00010
NM_001876.4(CPT1A):c.1352+6G>A	rs541440067	0.00002
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala)	rs889632692	0.00001
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val)	rs528019785	0.00001
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile)	rs1198520664	0.00001
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn)	rs745680805	0.00001
NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys)	rs1451283997
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His)	rs2153997934
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
NM_001876.4(CPT1A):c.1252G>A (p.Val418Met)
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)	rs747376723
NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr)	rs2153997915

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