ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease dominant intermediate f by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile)
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) rs1163990709
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.429A>G (p.Thr143=)
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)
NM_021629.4(GNB4):c.574T>G (p.Leu192Val)
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr)
NM_021629.4(GNB4):c.598G>A (p.Val200Ile)
NM_021629.4(GNB4):c.700-3T>C
NM_021629.4(GNB4):c.714A>G (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu)
NM_021629.4(GNB4):c.783_785ATT[1] (p.Leu263del) rs771274313
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) rs752762550
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.4(GNB4):c.853T>G (p.Leu285Val) rs554623238
NM_021629.4(GNB4):c.86C>T (p.Thr29Met)
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn) rs1167931862
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys)
NM_021629.4(GNB4):c.911G>A (p.Arg304His)
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro) rs1168008697
NM_021629.4(GNB4):c.939_940del (p.Asn313fs) rs1560208074

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.