ClinVar Miner

List of variants studied for Gamstorp-Wohlfart syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NC_000005.9:g.(?_130494966)_(130501051_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000005.9:g.(?_130495120)_(130500918_?)del
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.217-3C>T
NM_005340.7(HINT1):c.237T>A (p.Ile79=)
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)
NM_005340.7(HINT1):c.2T>C (p.Met1Thr)
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396

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.