List of variants reported as likely pathogenic for adult Refsum disease by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NM_000288.4(PEX7):c.131-1G>A	rs2115129048
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)	rs61753240
NM_000288.4(PEX7):c.340-1G>T	rs780751870
NM_000288.4(PEX7):c.363_526+230del	rs1582744649
NM_000288.4(PEX7):c.418-1G>C	rs773406384
NM_000288.4(PEX7):c.633+1G>A	rs1057516989
NM_000288.4(PEX7):c.736_747+17del	rs1057517257
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.748-2A>G	rs778862698

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.