List of variants in gene PEX16 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: 40

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004813.4(PEX16):c.543G>A (p.Thr181=)	rs144063598	0.00044
NM_004813.4(PEX16):c.695-6C>T	rs372182266	0.00036
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly)	rs140695185	0.00026
NM_004813.4(PEX16):c.887+9C>A	rs370590743	0.00026
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)	rs144897515	0.00024
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)	rs146657010	0.00016
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)	rs544053792	0.00013
NM_004813.4(PEX16):c.499G>A (p.Val167Met)	rs147332976	0.00010
NM_004813.4(PEX16):c.262G>A (p.Val88Met)	rs567165324	0.00009
NM_004813.4(PEX16):c.18C>G (p.Leu6=)	rs921940265	0.00004
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr)	rs374045163	0.00004
NM_004813.4(PEX16):c.180C>T (p.Leu60=)	rs779326282	0.00003
NM_004813.4(PEX16):c.208C>T (p.Arg70Trp)	rs886044340	0.00003
NM_004813.4(PEX16):c.273C>T (p.Cys91=)	rs146476007	0.00003
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg)	rs761839307	0.00003
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln)	rs1319561377	0.00003
NM_004813.4(PEX16):c.835A>G (p.Ile279Val)	rs1255335729	0.00003
NM_004813.4(PEX16):c.147G>A (p.Leu49=)	rs944696367	0.00002
NM_004813.4(PEX16):c.27C>T (p.Leu9=)	rs913040375	0.00002
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly)	rs1394054374	0.00002
NM_004813.4(PEX16):c.695-5G>A	rs775367961	0.00002
NM_004813.4(PEX16):c.885C>T (p.Ser295=)	rs200415017	0.00002
NM_004813.4(PEX16):c.370C>T (p.Arg124Trp)	rs754748410	0.00001
NM_004813.4(PEX16):c.612G>A (p.Glu204=)	rs758739455	0.00001
NM_004813.4(PEX16):c.623C>T (p.Ala208Val)	rs201173264	0.00001
NM_004813.4(PEX16):c.632C>T (p.Thr211Ile)	rs751488634	0.00001
NM_004813.4(PEX16):c.684G>A (p.Pro228=)	rs777904359	0.00001
NM_004813.4(PEX16):c.751G>A (p.Val251Ile)	rs1427929385	0.00001
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp)	rs886044625	0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln)	rs769838583	0.00001
NM_004813.4(PEX16):c.820C>A (p.Leu274Met)	rs751273439	0.00001
NM_004813.4(PEX16):c.996C>T (p.Phe332=)	rs200546977	0.00001
NM_004813.4(PEX16):c.132C>G (p.His44Gln)	rs1482183914
NM_004813.4(PEX16):c.415C>T (p.Pro139Ser)	rs1417399456
NM_004813.4(PEX16):c.541+8G>A	rs1565081217
NM_004813.4(PEX16):c.774C>T (p.Ser258=)	rs1031968916
NM_004813.4(PEX16):c.812G>T (p.Arg271Leu)	rs769838583
NM_004813.4(PEX16):c.874G>A (p.Asp292Asn)	rs757797918
NM_004813.4(PEX16):c.87G>A (p.Val29=)	rs1565082984
NM_004813.4(PEX16):c.922G>C (p.Asp308His)	rs749785179

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.