ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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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.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 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.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NC_000001.10:g.(?_161275666)_(161276731_?)del
NC_000001.10:g.(?_161275666)_(161279695_?)del
NC_000001.10:g.(?_161275666)_(161279695_?)dup
NC_000001.11:g.(?_161305674)_(161309915_?)dup
NC_000017.10:g.(?_14139889)_(15142928_?)del
NC_000017.10:g.(?_14139889)_(15406546_?)dup
NC_000017.10:g.(?_15132094)_(15169674_?)dup
NC_000017.10:g.(?_15133084)_(15134407_?)del
NC_000017.10:g.(?_15133084)_(15164054_?)del
NC_000017.10:g.(?_15133084)_(15164054_?)dup
NC_000017.10:g.(?_15133096)_(15165152_?)dup
NC_000017.10:g.(?_15133097)_(15164054_?)del
NC_000017.10:g.(?_15133097)_(15164054_?)dup
NC_000017.10:g.(?_15134214)_(15162530_?)dup
NC_000017.10:g.(?_15134214)_(15164064_?)del
NC_000017.10:g.(?_15134214)_(15164064_?)dup
NC_000017.10:g.(?_15134228)_(15164050_?)dup
NC_000017.10:g.(?_15134234)_(15164044_?)del
NC_000017.10:g.(?_15134234)_(15164044_?)dup
NC_000017.10:g.(?_15142768)_(15164064_?)dup
NC_000017.10:g.(?_15142778)_(15142938_?)del
NC_000017.10:g.(?_15142778)_(15164054_?)dup
NC_000017.10:g.(?_15162391)_(15164044_?)del
NC_000017.10:g.(?_15162401)_(15162520_?)del
NC_000017.10:g.(?_15162401)_(15162523_?)del
NC_000017.10:g.(?_15162411)_(15406546_?)dup
NC_000017.11:g.(?_15229767)_(15239621_?)del
NC_000017.11:g.(?_15229777)_(15260761_?)del
NC_000017.11:g.(?_15239451)_(15239631_?)del
NC_000017.11:g.(?_15239461)_(15260737_?)del
NC_000017.11:g.(?_15259084)_(15260737_?)del
NM_000304.2(PMP22):c.(?_-1)_(*1_?)del
NM_000304.2(PMP22):c.(?_-1)_(*1_?)dup
NM_000304.3(PMP22):c.-34-?_*1140dup1657
NM_000304.4(PMP22):c.117del (p.Trp39fs) rs1482355069
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.139del (p.Ser47fs)
NM_000304.4(PMP22):c.160_178+78delinsGGAC
NM_000304.4(PMP22):c.181del (p.Trp61fs) rs2150676904
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) rs1597608203
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.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>A (p.Ser72Ter) rs104894621
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.219_223dup (p.Phe75fs)
NM_000304.4(PMP22):c.227del (p.Ser76fs) rs1597608057
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.236C>T (p.Ser79Phe) rs104894618
NM_000304.4(PMP22):c.244dup (p.Leu82fs)
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.261_262del (p.Phe88fs) rs1567704791
NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs) rs864622678
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.318del (p.Gly107fs) rs1597607532
NM_000304.4(PMP22):c.319+1G>A rs1597607514
NM_000304.4(PMP22):c.319+1G>T rs1597607514
NM_000304.4(PMP22):c.319+2T>G
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.335del (p.Ser112fs) rs1906294453
NM_000304.4(PMP22):c.351C>A (p.Tyr117Ter) rs1906290133
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.36C>G (p.His12Gln)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.396del (p.Ser131_Tyr132insTer)
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) rs1597597534
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.430_431insAA (p.Pro144fs)
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.448G>C (p.Gly150Arg) rs104894624
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.52_56delinsGCGATCGTG (p.Leu18fs) rs1909244614
NM_000304.4(PMP22):c.68C>A (p.Thr23Lys) rs906563423
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.78+1G>A rs1426969421
NM_000304.4(PMP22):c.78+1G>C rs1426969421
NM_000304.4(PMP22):c.78+2T>C
NM_000304.4(PMP22):c.83G>A (p.Trp28Ter) rs1555568475
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu) rs281865137
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) rs121434563
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) rs749558026
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys) rs1670288858
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) rs1558154644
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter) rs1571820100
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter) rs2102259979
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.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.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) rs1571819964
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.208C>T (p.Pro70Ser) rs1571819890
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter) rs1558155838
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) rs573007540
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.232dup (p.Ser78fs)
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.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) rs1553259707
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_263dup (p.Tyr88Ter)
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
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.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.304_305insC (p.Val102fs)
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.323del (p.Lys108fs) rs2102259042
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.333_336del (p.Ile112fs) rs1670264356
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.345del (p.His115fs) rs2102258958
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn) rs1670263519
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer) rs1553259651
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) rs1571818819
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala) rs1553259649
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) rs863224449
NM_000530.8(MPZ):c.424del (p.Val142fs) rs2102258700
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis) rs1670258438
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.449-1G>C rs1571818339
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.491dup (p.Val165fs) rs1558153783
NM_000530.8(MPZ):c.496del (p.Leu166fs)
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.508_511del (p.Leu170fs)
NM_000530.8(MPZ):c.527_537del (p.Phe176fs)
NM_000530.8(MPZ):c.533_534del (p.Val178fs)
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs) rs1553259566
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter) rs2102257979
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter)
NM_000530.8(MPZ):c.613_616del (p.Pro205fs)
NM_000530.8(MPZ):c.638_639del (p.Gly213fs) rs2102257572
NM_000530.8(MPZ):c.645+2T>C
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) rs1571817154
NM_000530.8(MPZ):c.68-5T>G rs1553259835
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306

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