ClinVar Miner

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

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
MPZ, ASP195TYR
MPZ, THR216GLU-ARG
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.*1020G>A rs886045472
NM_000530.8(MPZ):c.*102C>T
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*341A>G
NM_000530.8(MPZ):c.*360C>G
NM_000530.8(MPZ):c.*369C>T
NM_000530.8(MPZ):c.*435T>G
NM_000530.8(MPZ):c.*522C>A
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.*752G>A
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901_*902GA[7] rs149030537
NM_000530.8(MPZ):c.*903G>A
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-10_-6dup
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.123_125del (p.Val42del)
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.136G>A (p.Val46Met)
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
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.190_192del (p.Phe64del)
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
NM_000530.8(MPZ):c.223del (p.Asp75fs)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.235-1G>C
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.242A>T (p.His81Leu)
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
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.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
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.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala)
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.290_293del (p.Glu97fs)
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)
NM_000530.8(MPZ):c.346A>C (p.Asn116His) rs267607242
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
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.405A>G (p.Ile135Met)
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
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.410G>C (p.Gly137Ala)
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
NM_000530.8(MPZ):c.449-1G>A
NM_000530.8(MPZ):c.449-1G>C
NM_000530.8(MPZ):c.449-1G>T
NM_000530.8(MPZ):c.449-9C>T
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
NM_000530.8(MPZ):c.486del (p.Ile162fs)
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter)
NM_000530.8(MPZ):c.550C>G (p.Leu184Val)
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
NM_000530.8(MPZ):c.551del (p.Leu184fs)
NM_000530.8(MPZ):c.553del (p.Arg185fs)
NM_000530.8(MPZ):c.554del (p.Arg185fs)
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
NM_000530.8(MPZ):c.560del (p.Gln187fs)
NM_000530.8(MPZ):c.570del (p.Gln191fs)
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
NM_000530.8(MPZ):c.68-5_71del
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
NP_000521.1(MPZ):p.Asn116Ser
Single allele

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