ClinVar Miner

List of variants in gene VMA21 reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.166G>A (p.Ala56Thr) rs140025330 0.00022
NM_001017980.4(VMA21):c.226G>A (p.Val76Ile) rs376099956 0.00004
NM_001017980.4(VMA21):c.194A>G (p.Tyr65Cys) rs146336700 0.00002
NM_001017980.4(VMA21):c.202G>T (p.Ala68Ser) rs778349414 0.00002
NM_001017980.4(VMA21):c.53+5C>T rs1045706196 0.00002
NM_001017980.4(VMA21):c.86C>T (p.Thr29Met) rs148033471 0.00002
NM_001017980.4(VMA21):c.127G>T (p.Gly43Trp) rs1246363659 0.00001
NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr) rs1464563401 0.00001
NM_001017980.4(VMA21):c.22G>A (p.Ala8Thr) rs1483109932 0.00001
NM_001017980.4(VMA21):c.29A>G (p.Asn10Ser) rs1197341312 0.00001
NM_001017980.4(VMA21):c.41C>T (p.Pro14Leu) rs1412988171 0.00001
NM_001017980.4(VMA21):c.112A>G (p.Ile38Val) rs2124125310
NM_001017980.4(VMA21):c.11C>A (p.Pro4Gln)
NM_001017980.4(VMA21):c.11C>G (p.Pro4Arg)
NM_001017980.4(VMA21):c.11C>T (p.Pro4Leu)
NM_001017980.4(VMA21):c.124A>G (p.Ile42Val)
NM_001017980.4(VMA21):c.164-3T>A
NM_001017980.4(VMA21):c.164G>A (p.Gly55Asp)
NM_001017980.4(VMA21):c.164G>T (p.Gly55Val) rs1306425454
NM_001017980.4(VMA21):c.172G>A (p.Gly58Arg)
NM_001017980.4(VMA21):c.175A>G (p.Met59Val) rs2124126715
NM_001017980.4(VMA21):c.187G>T (p.Asp63Tyr)
NM_001017980.4(VMA21):c.208A>G (p.Ile70Val)
NM_001017980.4(VMA21):c.220G>T (p.Val74Phe)
NM_001017980.4(VMA21):c.236T>G (p.Val79Gly) rs1602821150
NM_001017980.4(VMA21):c.23C>T (p.Ala8Val) rs1556034337
NM_001017980.4(VMA21):c.245T>G (p.Leu82Arg) rs2011274822
NM_001017980.4(VMA21):c.287G>A (p.Arg96His)
NM_001017980.4(VMA21):c.53+4G>T
NM_001017980.4(VMA21):c.54-27A>C rs878854352
NM_001017980.4(VMA21):c.54-27A>G
NM_001017980.4(VMA21):c.57T>G (p.Asn19Lys)
NM_001017980.4(VMA21):c.71C>A (p.Ala24Glu)
NM_001363810.1(VMA21):c.59G>A (p.Cys20Tyr)

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.