List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease recessive intermediate A by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.(?_75272366)_(75272551_?)del
NM_018972.4(GDAP1):c.117+1G>A	rs1808804404
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)	rs863224774
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)	rs1808862287
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)	rs773136934
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)	rs1174933176
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)	rs1586803187
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)	rs2131512957
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)	rs1809302381
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)	rs104894076
NM_018972.4(GDAP1):c.485-2del
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)	rs556827873
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)	rs879254192

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.