List of variants in gene GDAP1 reported as likely benign for Charcot-Marie-Tooth disease

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=)	rs374624466	0.00014
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)	rs181157785	0.00009
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)	rs756599272	0.00009
NM_018972.4(GDAP1):c.720C>T (p.Cys240=)	rs367790253	0.00006
NM_018972.4(GDAP1):c.123C>T (p.Arg41=)	rs1395874165	0.00001
NM_018972.4(GDAP1):c.118-16G>A	rs757760120
NM_018972.4(GDAP1):c.311-7A>G	rs1809284445
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)	rs1809382139
NM_018972.4(GDAP1):c.609G>A (p.Lys203=)	rs758365842

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.