ClinVar Miner

List of variants in gene GDAP1 reported by Molecular Genetics Laboratory, London Health Sciences Centre

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.579+417A>G rs16938894 0.18236
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782 0.00057
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466 0.00014
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
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.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_018972.4(GDAP1):c.123C>T (p.Arg41=) rs1395874165 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.118-16G>A rs757760120
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) rs1808869772
NM_018972.4(GDAP1):c.311-7A>G rs1809284445
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) rs1809382139
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.609G>A (p.Lys203=) rs758365842
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242

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.