ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14095256-15492591)x3
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
NC_000017.10:g.(?_15133094)_(15164078_?)dup
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000017.11:g.15133096_15164093dup
NC_012920.1:m.9185T>C rs199476138
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.206T>A (p.Met69Lys) rs104894620
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.35A>G (p.His12Arg) rs1909248652
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.234+1G>A
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.401A>T (p.Asp134Val) rs1571818775
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG rs2102257349
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val) rs104894522
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.430G>A (p.Val144Met) rs121908615
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) rs1429859627
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter) rs2117256073
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NP_000521.1(MPZ):p.Asn116Ser
Single allele

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