List of variants in gene FBXL4 reported as pathogenic by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)	rs964532159	0.00006
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	rs200440128	0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	rs201889294	0.00004
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)	rs1182326570	0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	rs1554222130	0.00001
NM_001278716.2(FBXL4):c.859-1G>T	rs368965675	0.00001
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)	rs1554219474
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter)	rs1187832552
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)	rs1554218789
NM_001278716.2(FBXL4):c.1389+3_1389+6del	rs1554216735
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)	rs398123059
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)	rs765882664
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)	rs1554215986
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	rs1554215979
NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)	rs1554215964
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)	rs747536886
NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs)	rs766892502
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)	rs1554222122
NM_001278716.2(FBXL4):c.326del (p.Ser109fs)	rs761215749
NM_001278716.2(FBXL4):c.513-1G>A	rs1554221258
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs)	rs886041625
NM_001278716.2(FBXL4):c.858+1G>T	rs1394080480

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