ClinVar Miner

List of variants studied for X-linked myopathy with excessive autophagy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.225C>T (p.Ala75=) rs139323488 0.00403
NM_001017980.4(VMA21):c.163+16T>G rs188765636 0.00294
NM_001017980.4(VMA21):c.182A>G (p.Asn61Ser) rs141926826 0.00208
NM_001017980.4(VMA21):c.165C>T (p.Gly55=) rs146017753 0.00100
NM_001017980.4(VMA21):c.163+14C>T rs373448097 0.00067
NM_001017980.4(VMA21):c.15T>G (p.Asp5Glu) rs765120199 0.00031
NM_001017980.4(VMA21):c.166G>A (p.Ala56Thr) rs140025330 0.00022
NM_001017980.4(VMA21):c.144T>G (p.Thr48=) rs201487581 0.00017
NM_001017980.4(VMA21):c.255T>C (p.Tyr85=) rs201565563 0.00010
NM_001017980.4(VMA21):c.76A>G (p.Thr26Ala) rs143565725 0.00010
NM_001017980.4(VMA21):c.226G>A (p.Val76Ile) rs376099956 0.00004
NM_001017980.4(VMA21):c.102A>G (p.Thr34=) rs141809048 0.00003
NM_001017980.4(VMA21):c.24G>A (p.Ala8=) rs752573385 0.00003
NM_001017980.4(VMA21):c.12G>A (p.Pro4=) rs1029458335 0.00002
NM_001017980.4(VMA21):c.194A>G (p.Tyr65Cys) rs146336700 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.222C>T (p.Val74=) rs757726449 0.00001
NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr) rs1464563401 0.00001
NM_001017980.4(VMA21):c.228C>A (p.Val76=) rs1420326652 0.00001
NM_001017980.4(VMA21):c.22G>A (p.Ala8Thr) rs1483109932 0.00001
NM_001017980.4(VMA21):c.252G>A (p.Val84=) rs748982102 0.00001
NM_001017980.4(VMA21):c.291A>G (p.Glu97=) rs1361409196 0.00001
NM_001017980.4(VMA21):c.29A>G (p.Asn10Ser) rs1197341312 0.00001
NM_001017980.4(VMA21):c.300G>A (p.Gln100=) rs976371455 0.00001
NM_001017980.4(VMA21):c.41C>T (p.Pro14Leu) rs1412988171 0.00001
NM_001017980.4(VMA21):c.53+18C>T rs1371007370 0.00001
NM_001017980.4(VMA21):c.54-17T>C rs760213001 0.00001
NM_001017980.4(VMA21):c.57T>C (p.Asn19=) rs1402497520 0.00001
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149613783)_(150573536_?)dup
NM_001017980.4(VMA21):c.*6A>G rs878854355
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.132A>G (p.Leu44=)
NM_001017980.4(VMA21):c.163+4A>G rs797044909
NM_001017980.4(VMA21):c.164-11del rs753508417
NM_001017980.4(VMA21):c.164-11dup rs753508417
NM_001017980.4(VMA21):c.164-19G>A
NM_001017980.4(VMA21):c.164-19G>T rs773306168
NM_001017980.4(VMA21):c.164-19_164-18del rs759922939
NM_001017980.4(VMA21):c.164-20del
NM_001017980.4(VMA21):c.164-7T>G rs878854353
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.180C>T (p.Ser60=)
NM_001017980.4(VMA21):c.183T>C (p.Asn61=)
NM_001017980.4(VMA21):c.187G>T (p.Asp63Tyr)
NM_001017980.4(VMA21):c.192C>T (p.Ser64=)
NM_001017980.4(VMA21):c.208A>G (p.Ile70Val)
NM_001017980.4(VMA21):c.213T>C (p.Val71=)
NM_001017980.4(VMA21):c.220G>T (p.Val74Phe)
NM_001017980.4(VMA21):c.231T>C (p.His77=)
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.258G>A (p.Val86=)
NM_001017980.4(VMA21):c.27G>C (p.Leu9=)
NM_001017980.4(VMA21):c.287G>A (p.Arg96His)
NM_001017980.4(VMA21):c.42T>C (p.Pro14=) rs2124119352
NM_001017980.4(VMA21):c.53+12C>A
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_001017980.4(VMA21):c.9C>T (p.Arg3=)

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.