List of variants in gene combination CPT1A, LOC126861244 reported as likely pathogenic 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.1213A>T (p.Lys405Ter)
NM_001876.4(CPT1A):c.1234G>A (p.Glu412Lys)	rs1855322463
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)	rs80356790
NM_001876.4(CPT1A):c.1298del (p.Asp433fs)	rs1057516304
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)	rs2153997913
NM_001876.4(CPT1A):c.1347C>G (p.Tyr449Ter)
NM_001876.4(CPT1A):c.1348_1352+4del	rs1555228640
NM_001876.4(CPT1A):c.1352+1G>C

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