ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported by IIFP, CONICET-UNLP

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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.