ClinVar Miner

List of variants in gene combination LOC129936056, SUMF1 reported as pathogenic for mucosulfatidosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer) rs2079966666 0.00001
NC_000003.12:g.(?_4449256)_(4467255_?)del
NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)
NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter) rs761237429
NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter) rs2124823466
NM_182760.4(SUMF1):c.164_170del (p.Pro55fs)
NM_182760.4(SUMF1):c.166del (p.Gln56fs)
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.191del (p.Ser64fs) rs2124823079
NM_182760.4(SUMF1):c.243del (p.Gly82fs) rs2124822282
NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter)
NM_182760.4(SUMF1):c.250_251del (p.Arg84fs)
NM_182760.4(SUMF1):c.266C>A (p.Ser89Ter)
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034

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.