ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory, London Health Sciences Center

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.448+2T>G
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.3(IGHMBP2):c.1061-1G>C
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
NM_020956.2(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
NM_030962.3(SBF2):c.1395+1G>A
NM_030973.4(MED25):c.135-1G>A
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs)
NM_138361.5(LRSAM1):c.2008del (p.Val670fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.750+2T>G
NM_138361.5(LRSAM1):c.904-2A>G
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
NM_181882.3(PRX):c.122del (p.Gly41fs)
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)

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.