List of variants in gene PEX13 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)	rs143972531	0.00058
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr)	rs145568490	0.00043
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly)	rs148296743	0.00039
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)	rs60203778	0.00022
NM_002618.4(PEX13):c.354T>C (p.Phe118=)	rs143378216	0.00021
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)	rs201699810	0.00017
NM_002618.4(PEX13):c.408T>A (p.Ile136=)	rs145776973	0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln)	rs775953595	0.00006
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	rs373118250	0.00005
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr)	rs749542687	0.00004
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe)	rs758388660	0.00003
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg)	rs752073595	0.00003
NM_002618.4(PEX13):c.1014A>G (p.Lys338=)	rs748712609	0.00001
NM_002618.4(PEX13):c.1095G>A (p.Thr365=)	rs754460647	0.00001
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu)	rs886044219	0.00001
NM_002618.4(PEX13):c.127C>T (p.Pro43Ser)	rs753530129	0.00001
NM_002618.4(PEX13):c.307C>T (p.Leu103=)	rs767987790	0.00001
NM_002618.4(PEX13):c.409G>A (p.Val137Met)	rs768438349	0.00001
NM_002618.4(PEX13):c.534G>T (p.Val178=)	rs1162525817	0.00001
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp)	rs752948360	0.00001
NM_002618.4(PEX13):c.879C>T (p.Phe293=)	rs559122068	0.00001
NM_002618.4(PEX13):c.962A>G (p.Gln321Arg)	rs1280942658	0.00001
NM_002618.4(PEX13):c.1025C>T (p.Thr342Met)	rs1559047158
NM_002618.4(PEX13):c.1111G>C (p.Asp371His)	rs1559047319
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu)	rs1203618499
NM_002618.4(PEX13):c.202G>A (p.Val68Met)	rs1553423403
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp)	rs745620818
NM_002618.4(PEX13):c.477G>C (p.Arg159Ser)	rs1559035599
NM_002618.4(PEX13):c.499C>A (p.His167Asn)	rs1553423466
NM_002618.4(PEX13):c.871A>G (p.Ile291Val)	rs1444535263

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.