ClinVar Miner

List of variants reported as likely benign for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000044.6(AR):c.1370_1372GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[16] (p.Gly473del) rs746853821
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Gln58_Gln59insLeuGlnGln) rs1206863775
NM_024531.5(SLC52A2):c.1113G>A (p.Gly371=) rs149575570
NM_024531.5(SLC52A2):c.1122C>T (p.Leu374=) rs144290224
NM_024531.5(SLC52A2):c.1209G>A (p.Pro403=) rs374612342
NM_024531.5(SLC52A2):c.126A>C (p.Pro42=) rs527404024
NM_024531.5(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_024531.5(SLC52A2):c.228C>T (p.Asp76=) rs111588500
NM_024531.5(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_024531.5(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
NM_024531.5(SLC52A2):c.487C>T (p.Leu163=) rs781887989
NM_024531.5(SLC52A2):c.606C>T (p.Ala202=) rs187632310
NM_024531.5(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_024531.5(SLC52A2):c.835C>T (p.Leu279=) rs782298419
NM_024531.5(SLC52A2):c.84T>C (p.Asn28=) rs200102613
NM_024531.5(SLC52A2):c.864G>A (p.Ala288=) rs782702240
NM_024531.5(SLC52A2):c.888C>T (p.Ala296=) rs375399467
NM_024531.5(SLC52A2):c.951C>T (p.Gly317=) rs543461928
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) rs776667122
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=) rs1455468261
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=) rs146474751
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) rs756359704
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) rs532778217
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) rs139430185
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378

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.