ClinVar Miner

List of variants studied for Charcot-Marie-Tooth, Intermediate

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.*1489del rs34856543 0.04395
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_018972.2(GDAP1):c.*2730_*2731insAA rs886063120 0.00306
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_003680.4(YARS1):c.510+10G>C rs201272488 0.00024
NM_001005361.3(DNM2):c.789G>A (p.Pro263=) rs199976453 0.00014
NM_003680.4(YARS1):c.414C>T (p.Ser138=) rs762551221 0.00004
NM_018972.4(GDAP1):c.*934_*935insTA rs368736368 0.00001
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_001005361.3(DNM2):c.*29dup rs575649173
NM_001005361.3(DNM2):c.*312dup rs886054146
NM_001362931.2(GDAP1):c.694+4057_694+4060dup rs71563287
NM_001362931.2(GDAP1):c.694+4059_694+4060dup rs71563287
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003680.4(YARS1):c.*305CA[1] rs372462149
NM_003680.4(YARS1):c.*442AAAGG[1] rs142185532
NM_003680.4(YARS1):c.982T>C (p.Phe328Leu) rs1057515512
NM_018972.2(GDAP1):c.*2553dup rs886063118
NM_018972.2(GDAP1):c.*2730_*2731insAAA rs886063120
NM_018972.4(GDAP1):c.-51_-49del rs201803887

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.