List of variants in gene CPT1C reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001199753.2(CPT1C):c.1731+7T>A	rs201870376	0.00439
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met)	rs79488403	0.00356
NM_001199753.2(CPT1C):c.1915G>A (p.Ala639Thr)	rs143478074	0.00227
NM_001199753.2(CPT1C):c.855C>T (p.Arg285=)	rs140099471	0.00021
NM_001199753.2(CPT1C):c.1125C>T (p.His375=)	rs141956324	0.00017
NM_001199753.2(CPT1C):c.1308C>T (p.Tyr436=)	rs138872867	0.00015
NM_001199753.2(CPT1C):c.863G>A (p.Arg288His)	rs143361095	0.00006
NM_001199753.2(CPT1C):c.253G>A (p.Glu85Lys)	rs202006349	0.00005
NM_001199753.2(CPT1C):c.1593G>A (p.Leu531=)
NM_001199753.2(CPT1C):c.1655G>T (p.Gly552Val)	rs1486248764
NM_001199753.2(CPT1C):c.1681C>T (p.Leu561Phe)	rs2123484172
NM_001199753.2(CPT1C):c.1822del (p.Glu608fs)	rs1469642784
NM_001199753.2(CPT1C):c.2396C>T (p.Thr799Ile)
NM_001199753.2(CPT1C):c.534T>C (p.Ser178=)
NM_001199753.2(CPT1C):c.617C>T (p.Ala206Val)

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