ClinVar Miner

List of variants in gene MPZ reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (173):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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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.103G>A (p.Asp35Asn) rs121913596 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795 0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
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.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.234+1G>A
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
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.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
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.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.560del (p.Gln187fs) rs1571817966
NM_000530.8(MPZ):c.574_575del (p.Arg192fs) rs1571817911
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_000530.8(MPZ):c.68-5_71del rs1571820401
NP_000521.1(MPZ):p.Asn116Ser

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