List of variants in gene GUSB reported as likely pathogenic for Mucopolysaccharidosis type 7

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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	rs121918185	0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	rs774393243	0.00002
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)	rs398123234	0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)	rs121918173	0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)	rs764018631	0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	rs121918184	0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)	rs786205673	0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)	rs121918174	0.00001
NM_000181.4(GUSB):c.893C>T (p.Ala298Val)	rs1451709678	0.00001
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter)	rs1238361161
NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu)	rs1264172545
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del)	rs1791443181
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)	rs1302470051
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly)	rs2115900875
NM_000181.4(GUSB):c.1476_1476+13del
NM_000181.4(GUSB):c.1654-1G>A
NM_000181.4(GUSB):c.1783del (p.Glu595fs)
NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln)	rs1583879945
NM_000181.4(GUSB):c.2T>G (p.Met1Arg)
NM_000181.4(GUSB):c.396+1G>A
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
NM_000181.4(GUSB):c.560_581+13del
NM_000181.4(GUSB):c.581+1G>A
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)	rs1791836120
NM_000181.4(GUSB):c.724+1G>T	rs2116026958

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.