ClinVar Miner

List of variants in gene MPZ reported as uncertain significance for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.*341A>G rs557613782 0.00033
NM_000530.8(MPZ):c.*752G>A rs533147214 0.00031
NM_000530.8(MPZ):c.*435T>G rs868502674 0.00025
NM_000530.8(MPZ):c.*1020G>A rs886045472 0.00007
NM_000530.8(MPZ):c.*102C>T rs774748921 0.00007
NM_000530.8(MPZ):c.*681A>T rs886045474 0.00005
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) rs764402416 0.00003
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) rs573456055 0.00003
NM_000530.8(MPZ):c.*522C>A rs900816889 0.00002
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly) rs1261999242 0.00002
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn) rs758417016 0.00002
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729 0.00002
NM_000530.8(MPZ):c.*1074A>C rs886045471 0.00001
NM_000530.8(MPZ):c.*369C>T rs1359055917 0.00001
NM_000530.8(MPZ):c.*903G>A rs1489097338 0.00001
NM_000530.8(MPZ):c.116A>G (p.His39Arg) rs371856018 0.00001
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) rs760227243 0.00001
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser) rs765575997 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) rs749459367 0.00001
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr) rs540599381 0.00001
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser) rs777338757 0.00001
NM_000530.8(MPZ):c.275T>A (p.Val92Glu) rs1352220911 0.00001
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu) rs1399612102 0.00001
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) rs777378929 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
NM_000530.8(MPZ):c.345C>A (p.His115Gln) rs752484126 0.00001
NM_000530.8(MPZ):c.37A>G (p.Ile13Val) rs145285010 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.488G>C (p.Gly163Ala) rs1487233699 0.00001
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) rs776316386 0.00001
NM_000530.8(MPZ):c.523C>T (p.Leu175Phe) rs779924223 0.00001
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) rs1238706311 0.00001
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998 0.00001
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00001
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser) rs1427001812 0.00001
NM_000530.8(MPZ):c.589A>G (p.Met197Val) rs567817208 0.00001
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu) rs1402742506 0.00001
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala) rs779164418 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_000530.8(MPZ):c.68-3C>T rs1182729605 0.00001
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn) rs773002116 0.00001
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala) rs543191426 0.00001
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr) rs1471261466 0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser) rs1571820317
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu) rs1322340264
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys) rs1670288965
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser) rs1670288915
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) rs1558155851
NM_000530.8(MPZ):c.119G>C (p.Gly40Ala)
NM_000530.8(MPZ):c.119G>T (p.Gly40Val)
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala) rs1571820237
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.136G>C (p.Val46Leu) rs1571820190
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser) rs773063356
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile) rs2526243767
NM_000530.8(MPZ):c.145C>A (p.His49Asn) rs1249454189
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr) rs2526243660
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) rs1571820100
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys) rs1571820100
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) rs1553259785
NM_000530.8(MPZ):c.161C>T (p.Ser54Phe)
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn) rs121913604
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.182A>T (p.Asp61Val) rs786204119
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) rs121913602
NM_000530.8(MPZ):c.194C>G (p.Thr65Ser)
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) rs1060503421
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly) rs1060503421
NM_000530.8(MPZ):c.209C>A (p.Pro70His) rs1571819875
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly) rs1670283749
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) rs1060503422
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala) rs773724920
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) rs773724920
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys) rs1670283272
NM_000530.8(MPZ):c.218G>A (p.Gly73Asp)
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.227C>A (p.Ala76Asp)
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro) rs2102259765
NM_000530.8(MPZ):c.234+5G>A
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.234G>T (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.235-9_267dup
NM_000530.8(MPZ):c.235A>G (p.Ile79Val) rs2526239163
NM_000530.8(MPZ):c.239T>G (p.Phe80Cys)
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.247G>A (p.Ala83Thr)
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu) rs2526239109
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) rs1670269181
NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn) rs2526239035
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser) rs1553259700
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) rs1553259700
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) rs1558154208
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn) rs776394079
NM_000530.8(MPZ):c.272A>C (p.Glu91Ala)
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.278G>T (p.Gly93Val) rs1060503418
NM_000530.8(MPZ):c.28C>G (p.Pro10Ala)
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu) rs2102259152
NM_000530.8(MPZ):c.295A>T (p.Ile99Phe)
NM_000530.8(MPZ):c.305T>A (p.Val102Glu) rs2102259119
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) rs1060503419
NM_000530.8(MPZ):c.308G>C (p.Gly103Ala)
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) rs777378929
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly) rs1670265880
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) rs121913609
NM_000530.8(MPZ):c.322A>G (p.Lys108Glu) rs2526238548
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg) rs2102259040
NM_000530.8(MPZ):c.325G>C (p.Asp109His) rs1060503420
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly) rs1670264965
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) rs1553259664
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr) rs1553259663
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile) rs2526238338
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala) rs1281869273
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro) rs2102258946
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg) rs2102258946
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp) rs1670263376
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) rs878854030
NM_000530.8(MPZ):c.369C>T (p.Gly123=) rs2526238193
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser) rs1571818905
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser) rs2526238155
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser) rs1230674741
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly) rs2526238124
NM_000530.8(MPZ):c.382G>C (p.Asp128His) rs267607243
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr) rs267607243
NM_000530.8(MPZ):c.385G>T (p.Val129Phe) rs201156403
NM_000530.8(MPZ):c.386T>G (p.Val129Gly) rs2102258829
NM_000530.8(MPZ):c.38T>A (p.Ile13Asn)
NM_000530.8(MPZ):c.391A>C (p.Asn131His) rs1571818826
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala) rs1571818775
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) rs1553259646
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.407T>G (p.Val136Gly) rs1571818744
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln) rs1571818721
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) rs1571818721
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr) rs2526237736
NM_000530.8(MPZ):c.415_417del (p.Thr139del) rs2526237721
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro) rs572010627
NM_000530.8(MPZ):c.424G>A (p.Val142Ile) rs876661257
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del) rs2526237612
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys) rs1670257659
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) rs1670257548
NM_000530.8(MPZ):c.448+12G>T rs2102258615
NM_000530.8(MPZ):c.448G>A (p.Val150Met) rs1558153967
NM_000530.8(MPZ):c.448G>T (p.Val150Leu) rs1558153967
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.459G>C (p.Arg153Ser)
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg) rs1430687377
NM_000530.8(MPZ):c.466G>T (p.Val156Phe) rs775916243
NM_000530.8(MPZ):c.470T>C (p.Val157Ala)
NM_000530.8(MPZ):c.472C>A (p.Leu158Met)
NM_000530.8(MPZ):c.474G>A (p.Leu158=) rs1161359905
NM_000530.8(MPZ):c.486C>G (p.Ile162Met) rs267607246
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp) rs2526236107
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.528C>G (p.Phe176Leu)
NM_000530.8(MPZ):c.529T>C (p.Tyr177His) rs758417016
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) rs1385085988
NM_000530.8(MPZ):c.553C>T (p.Arg185Cys)
NM_000530.8(MPZ):c.566C>T (p.Ala189Val) rs1268318757
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys) rs2526235564
NM_000530.8(MPZ):c.584+3A>T rs1670241598
NM_000530.8(MPZ):c.585-3C>A
NM_000530.8(MPZ):c.590T>G (p.Met197Arg) rs2526234406
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) rs1670234637
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu) rs2526234181
NM_000530.8(MPZ):c.618A>T (p.Gly206=) rs2526234147
NM_000530.8(MPZ):c.641G>T (p.Arg214Leu) rs147718043
NM_000530.8(MPZ):c.645G>A (p.Gln215=) rs1670232790
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-16_654dup rs2526233338
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-6C>G
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala) rs281865132
NM_000530.8(MPZ):c.656T>A (p.Leu219Gln)
NM_000530.8(MPZ):c.67+3A>G
NM_000530.8(MPZ):c.67+4A>G rs1571822765
NM_000530.8(MPZ):c.67+5G>T rs1670359056
NM_000530.8(MPZ):c.67G>A (p.Val23Met) rs2526250478
NM_000530.8(MPZ):c.68-11T>C rs2526244269
NM_000530.8(MPZ):c.68-12T>G
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu) rs2102257203
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) rs1670224859
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn) rs1455200299
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) rs775575673
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe) rs779544770
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu) rs1571816977
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln) rs1670223250
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro) rs2526244139
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) rs1386345719
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000530.8(MPZ):c.91G>C (p.Val31Leu)
NM_000530.8(MPZ):c.95T>G (p.Val32Gly) rs1670289570
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609

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