ClinVar Miner

List of variants reported as pathogenic for Werdnig-Hoffmann disease by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_741650)_(746438_?)del
NC_000023.10:g.(?_66905852)_(66905968_?)del
NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2528T>C (p.Ile843Thr)
NM_000044.6(AR):c.2546dup (p.Asn849fs)
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
NM_000044.6(AR):c.271C>T (p.Gln91Ter)
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs)
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606
NM_001253816.1(SLC52A2):c.116_130+83del rs1564653965
NM_001253816.1(SLC52A2):c.551del (p.Pro184fs) rs1554854044
NM_001253816.1(SLC52A2):c.751C>T (p.Gln251Ter)
NM_001253816.1(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539
NM_001253816.1(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641

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.