ClinVar Miner

List of variants in gene MPV17 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23694
NM_002437.5(MPV17):c.180C>A (p.Gly60=) rs377148388 0.00033
NM_002437.5(MPV17):c.461+2T>C rs138199394 0.00015
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00011
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00007
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) rs112170670 0.00007
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002437.5(MPV17):c.301C>G (p.Leu101Val) rs369706595 0.00004
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) rs980207020 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter) rs863224074 0.00001
NM_002437.5(MPV17):c.375+2T>C rs1054997754 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002437.5(MPV17):c.461+1G>T rs770838975 0.00001
NM_002437.5(MPV17):c.71-1G>T rs751134093 0.00001
NM_002437.5(MPV17):c.101C>G (p.Ser34Ter) rs2465685275
NM_002437.5(MPV17):c.103C>T (p.Gln35Ter) rs2465685264
NM_002437.5(MPV17):c.106C>T (p.Gln36Ter) rs754051090
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002437.5(MPV17):c.139del (p.Gln47fs) rs2148216335
NM_002437.5(MPV17):c.179del (p.Gly60fs) rs1558599953
NM_002437.5(MPV17):c.187-2A>T rs2465683526
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) rs1679497709
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.279+1G>C
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.280-2del rs2465682200
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257
NM_002437.5(MPV17):c.296_297del (p.Cys99fs) rs2465682059
NM_002437.5(MPV17):c.326G>A (p.Gly109Glu)
NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer) rs2465681881
NM_002437.5(MPV17):c.354dup (p.Asn119fs) rs2465681789
NM_002437.5(MPV17):c.375+1G>A rs2465681506
NM_002437.5(MPV17):c.375+1G>T rs2465681506
NM_002437.5(MPV17):c.376-2A>C rs113055360
NM_002437.5(MPV17):c.391del (p.Ile132fs) rs1469699202
NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.408+1G>A rs749361266
NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter) rs1572542511
NM_002437.5(MPV17):c.450_451dup (p.Leu151fs)
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.459C>G (p.Tyr153Ter) rs957850339
NM_002437.5(MPV17):c.461+1G>C rs770838975
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.462-2A>C rs767818298
NM_002437.5(MPV17):c.58del (p.Val20fs) rs2465711204
NM_002437.5(MPV17):c.71-1G>A
NM_002437.5(MPV17):c.83G>T (p.Gly28Val) rs2465685415
NM_002437.5(MPV17):c.[122G>A];[71-2A>G]

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.