List of variants in gene PHYH reported as uncertain significance for peroxisomal disease

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: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	rs62619919	0.00690
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)	rs34571629	0.00155
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)	rs145404396	0.00140
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)	rs143957922	0.00124
NM_006214.4(PHYH):c.829-3C>A	rs116930123	0.00093
NM_006214.4(PHYH):c.678+5G>T	rs201499815	0.00049
NM_006214.4(PHYH):c.792C>T (p.His264=)	rs372047384	0.00034
NM_006214.4(PHYH):c.948T>C (p.Asn316=)	rs143734330	0.00024
NM_006214.4(PHYH):c.*188A>C	rs1307667521	0.00023
NM_006214.4(PHYH):c.581C>T (p.Thr194Met)	rs141554572	0.00019
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)	rs201979258	0.00015
NM_006214.4(PHYH):c.*25C>T	rs760780410	0.00008
NM_006214.4(PHYH):c.76-9A>T	rs368542152	0.00007
NM_006214.4(PHYH):c.354C>G (p.Ile118Met)	rs779724199	0.00006
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr)	rs751660253	0.00006
NM_006214.4(PHYH):c.*417A>G	rs1302015884	0.00005
NM_006214.4(PHYH):c.83A>G (p.His28Arg)	rs778011598	0.00002
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp)	rs758218321	0.00001
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln)	rs886046830	0.00001
NM_006214.4(PHYH):c.506C>T (p.Thr169Met)	rs1002598201	0.00001
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg)	rs750819521	0.00001
NM_006214.3(PHYH):c.-78G>T	rs886046832
NM_006214.4(PHYH):c.*253G>T	rs550905616
NM_006214.4(PHYH):c.*434A>G	rs1835323896
NM_006214.4(PHYH):c.*499C>T	rs953706106
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr)	rs886046831
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp)	rs145404396
NM_006214.4(PHYH):c.321G>T (p.Ser107=)	rs115198308
NM_006214.4(PHYH):c.621_623del (p.Val208del)	rs755838466
NM_006214.4(PHYH):c.626T>G (p.Leu209Arg)
NM_006214.4(PHYH):c.679-11T>A	rs886046828
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)	rs201936962
NM_006214.4(PHYH):c.739C>T (p.His247Tyr)	rs1835475877
NM_006214.4(PHYH):c.828+4A>T	rs1835471952
NM_006214.4(PHYH):c.93A>C (p.Ser31=)	rs202198596

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.