ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Inherited Neuropathy Consortium

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795 0.00001
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181 0.00001
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter) rs1210729449 0.00001
NM_000166.6(GJB1):c.576del (p.Phe193fs) rs1602349692
NM_000166.6(GJB1):c.629_632del (p.Val210fs) rs1602349779
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.785_786del (p.Ile262fs) rs1602349962
NM_000166.6(GJB1):c.800del (p.Pro267fs) rs1602350003
NM_000166.6(GJB1):c.822del (p.Glu275fs) rs1602350029
NM_000166.6(GJB1):c.844dup (p.Ala282fs) rs1602350062
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.76del (p.Ser26fs) rs1597635540
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.560del (p.Gln187fs) rs1571817966
NM_000530.8(MPZ):c.574_575del (p.Arg192fs) rs1571817911
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.68-5_71del rs1571820401
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) rs1583964560
NM_001540.5(HSPB1):c.505del (p.Met169fs) rs1583966508
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014874.4(MFN2):c.1392+1G>A rs1569861708
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter) rs1569871830
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) rs1474390668
NM_018972.4(GDAP1):c.928del (p.Arg310fs) rs1586807541
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.4(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.4(SH3TC2):c.688del (p.Val230fs) rs775740308
NM_024577.4(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.124_125dup (p.Phe43fs) rs1599662837

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.