ClinVar Miner

List of variants in gene combination TAPBPL, VAMP1 reported as uncertain significance for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser) rs773396496 0.00007
NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr) rs776075796 0.00005
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr) rs901075787 0.00003
NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser) rs758185488 0.00003
NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly) rs375340840 0.00002
NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr) rs772852206 0.00002
NM_014231.5(VAMP1):c.2+3G>A rs982874261 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014231.5(VAMP1):c.325G>A (p.Val109Met) rs147397648 0.00001
NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile) rs1232673532 0.00001
NM_014231.5(VAMP1):c.98G>A (p.Arg33Gln) rs1256770289 0.00001
NM_014231.5(VAMP1):c.129G>C (p.Glu43Asp)
NM_014231.5(VAMP1):c.130-6C>G rs781012325
NM_014231.5(VAMP1):c.146G>A (p.Arg49His)
NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu)
NM_014231.5(VAMP1):c.16C>G (p.Gln6Glu)
NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro)
NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)
NM_014231.5(VAMP1):c.20C>T (p.Pro7Leu)
NM_014231.5(VAMP1):c.291G>C (p.Met97Ile)
NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr)
NM_014231.5(VAMP1):c.324C>T (p.Ile108=)
NM_014231.5(VAMP1):c.338dup (p.Ile114fs)
NM_014231.5(VAMP1):c.341-18C>A
NM_014231.5(VAMP1):c.341-2A>G
NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr) rs2137003108
NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu)
NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg)
NM_014231.5(VAMP1):c.58G>A (p.Gly20Ser) rs1950023147
NM_014231.5(VAMP1):c.71C>A (p.Pro24His)
NM_014231.5(VAMP1):c.74C>T (p.Pro25Leu) rs2137008968

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.