ClinVar Miner

List of variants in gene PMP22 studied for Charcot-Marie-Tooth disease, type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.178+22A>G rs231020 0.59479
NM_000304.4(PMP22):c.179-83T>C rs230950 0.56915
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000304.4(PMP22):c.319+33C>T rs3744333 0.06039
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.179-17G>A rs77406217 0.00621
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_000304.4(PMP22):c.*173C>T rs117277951 0.00044
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_000304.4(PMP22):c.423G>T (p.Val141=) rs144077495 0.00021
NM_000304.4(PMP22):c.268C>G (p.Leu90Val) rs147114400 0.00020
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820 0.00014
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000304.4(PMP22):c.402C>T (p.Phe134=) rs536417866 0.00011
NM_000304.4(PMP22):c.72C>A (p.Ile24=) rs371373574 0.00010
NM_000304.4(PMP22):c.177C>T (p.Asn59=) rs376797385 0.00009
NM_000304.4(PMP22):c.318T>C (p.Ala106=) rs778234032 0.00009
NM_000304.4(PMP22):c.69G>C (p.Thr23=) rs376847762 0.00009
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_000304.4(PMP22):c.88G>A (p.Val30Met) rs377335295 0.00007
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 0.00006
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00005
NM_000304.4(PMP22):c.426C>T (p.Ala142=) rs763227987 0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000304.4(PMP22):c.25A>G (p.Ile9Val) rs138515303 0.00004
NM_000304.4(PMP22):c.342G>A (p.Ala114=) rs201871607 0.00004
NM_000304.4(PMP22):c.381C>T (p.Asn127=) rs369477577 0.00004
NM_000304.4(PMP22):c.383C>T (p.Ser128Leu) rs778731157 0.00004
NM_000304.4(PMP22):c.18G>C (p.Leu6=) rs781550490 0.00003
NM_000304.4(PMP22):c.21T>C (p.Ser7=) rs755300278 0.00003
NM_000304.4(PMP22):c.365C>T (p.Pro122Leu) rs768085434 0.00003
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.173C>A (p.Pro58Gln) rs745939923 0.00002
NM_000304.4(PMP22):c.179-13C>G rs756820859 0.00002
NM_000304.4(PMP22):c.234G>A (p.Leu78=) rs745546543 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000304.4(PMP22):c.477C>T (p.Arg159=) rs778132801 0.00002
NM_000304.4(PMP22):c.96T>C (p.Asn32=) rs1315038358 0.00002
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.100C>T (p.His34Tyr) rs756458019 0.00001
NM_000304.4(PMP22):c.102C>T (p.His34=) rs779654897 0.00001
NM_000304.4(PMP22):c.103G>A (p.Ala35Thr) rs750000952 0.00001
NM_000304.4(PMP22):c.130A>T (p.Thr44Ser) rs112651887 0.00001
NM_000304.4(PMP22):c.134C>T (p.Ser45Phe) rs1259742235 0.00001
NM_000304.4(PMP22):c.206T>C (p.Met69Thr) rs104894620 0.00001
NM_000304.4(PMP22):c.216G>A (p.Ser72=) rs774493881 0.00001
NM_000304.4(PMP22):c.241T>C (p.Phe81Leu) rs748551014 0.00001
NM_000304.4(PMP22):c.246G>A (p.Leu82=) rs779700333 0.00001
NM_000304.4(PMP22):c.301A>C (p.Ile101Leu) rs1461201721 0.00001
NM_000304.4(PMP22):c.319+14G>T rs1567704579 0.00001
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028 0.00001
NM_000304.4(PMP22):c.328G>A (p.Val110Met) rs1044810473 0.00001
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs140763467 0.00001
NM_000304.4(PMP22):c.409A>G (p.Ile137Val) rs755551524 0.00001
NM_000304.4(PMP22):c.447C>T (p.Ser149=) rs775019409 0.00001
NM_000304.4(PMP22):c.454A>G (p.Ile152Val) rs1398185771 0.00001
NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys) rs761138676 0.00001
NM_000304.4(PMP22):c.471G>A (p.Arg157=) rs770693814 0.00001
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_000304.4(PMP22):c.78+10T>C rs1197403748 0.00001
NM_000304.4(PMP22):c.84G>C (p.Trp28Cys) rs1442525908 0.00001
NM_000304.4(PMP22):c.98G>A (p.Gly33Glu) rs754175558 0.00001
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.(?_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.(?_15134234)_(15164044_?)del
NC_000017.10:g.(?_15134234)_(15164044_?)dup
NC_000017.10:g.(?_15142768)_(15142948_?)dup
NC_000017.10:g.(?_15142768)_(15164064_?)dup
NC_000017.10:g.(?_15142778)_(15142938_?)del
NC_000017.10:g.(?_15162391)_(15164044_?)del
NC_000017.10:g.(?_15162401)_(15162520_?)del
NC_000017.10:g.(?_15162401)_(15162523_?)del
NC_000017.11:g.(?_15229767)_(15239621_?)del
NC_000017.11:g.(?_15239451)_(15239631_?)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_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.109G>A (p.Asp37Asn)
NM_000304.4(PMP22):c.113T>C (p.Leu38Pro) rs1234608261
NM_000304.4(PMP22):c.117del (p.Trp39fs) rs1482355069
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.125G>A (p.Cys42Tyr)
NM_000304.4(PMP22):c.138C>A (p.Ser46=)
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.139del (p.Ser47fs)
NM_000304.4(PMP22):c.153C>T (p.His51=)
NM_000304.4(PMP22):c.160_178+78delinsGGAC
NM_000304.4(PMP22):c.172C>T (p.Pro58Ser) rs772242644
NM_000304.4(PMP22):c.178+7C>G
NM_000304.4(PMP22):c.178G>A (p.Glu60Lys)
NM_000304.4(PMP22):c.179-15G>C
NM_000304.4(PMP22):c.179-17G>C
NM_000304.4(PMP22):c.179-20C>G rs1907138508
NM_000304.4(PMP22):c.179-3C>G rs1284105482
NM_000304.4(PMP22):c.180A>G (p.Glu60=) rs1223037928
NM_000304.4(PMP22):c.181del (p.Trp61fs) rs2150676904
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) rs1597608203
NM_000304.4(PMP22):c.189G>A (p.Gln63=)
NM_000304.4(PMP22):c.191C>T (p.Ser64Phe) rs1311837830
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.203C>T (p.Thr68Ile) rs2150676849
NM_000304.4(PMP22):c.206T>A (p.Met69Lys) rs104894620
NM_000304.4(PMP22):c.212T>A (p.Leu71Gln)
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.229A>G (p.Ile77Val)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
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.23T>A (p.Ile8Asn)
NM_000304.4(PMP22):c.244dup (p.Leu82fs)
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) rs1597607920
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.266C>A (p.Thr89Asn) rs189205303
NM_000304.4(PMP22):c.267C>T (p.Thr89=)
NM_000304.4(PMP22):c.273C>T (p.Thr91=)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) rs778693173
NM_000304.4(PMP22):c.277G>T (p.Gly93Trp)
NM_000304.4(PMP22):c.278G>C (p.Gly93Ala)
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.292A>G (p.Ile98Val) rs748778392
NM_000304.4(PMP22):c.296C>T (p.Thr99Ile)
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.316G>A (p.Ala106Thr)
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) rs1597607537
NM_000304.4(PMP22):c.318del (p.Gly107fs) rs1597607532
NM_000304.4(PMP22):c.319+11G>A
NM_000304.4(PMP22):c.319+1G>A rs1597607514
NM_000304.4(PMP22):c.319+1G>T rs1597607514
NM_000304.4(PMP22):c.319G>C (p.Gly107Arg) rs1362042435
NM_000304.4(PMP22):c.320-18G>A
NM_000304.4(PMP22):c.320-4C>G rs377467465
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.32T>G (p.Leu11Arg) rs1567719334
NM_000304.4(PMP22):c.330G>C (p.Val110=)
NM_000304.4(PMP22):c.335del (p.Ser112fs) rs1906294453
NM_000304.4(PMP22):c.338C>T (p.Ala113Val) rs774831750
NM_000304.4(PMP22):c.345C>T (p.Ala115=)
NM_000304.4(PMP22):c.350A>G (p.Tyr117Cys)
NM_000304.4(PMP22):c.351C>A (p.Tyr117Ter) rs1906290133
NM_000304.4(PMP22):c.351C>T (p.Tyr117=) rs1906290133
NM_000304.4(PMP22):c.354G>A (p.Thr118=)
NM_000304.4(PMP22):c.35A>G (p.His12Arg) rs1909248652
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.369G>A (p.Glu123=)
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.36C>G (p.His12Gln)
NM_000304.4(PMP22):c.36C>T (p.His12=) rs104894622
NM_000304.4(PMP22):c.370T>C (p.Trp124Arg)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.374A>G (p.His125Arg) rs2150664758
NM_000304.4(PMP22):c.376C>G (p.Leu126Val)
NM_000304.4(PMP22):c.380A>G (p.Asn127Ser) rs1345860559
NM_000304.4(PMP22):c.387T>C (p.Asp129=) rs1597597640
NM_000304.4(PMP22):c.38T>C (p.Val13Ala) rs1909248074
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.393C>T (p.Ser131=)
NM_000304.4(PMP22):c.396del (p.Ser131_Tyr132insTer)
NM_000304.4(PMP22):c.413T>C (p.Leu138Pro)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) rs1555564040
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.421G>A (p.Val141Met)
NM_000304.4(PMP22):c.42G>C (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.42G>T (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.434T>G (p.Leu145Arg) rs1906263385
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.435G>A (p.Leu145=) rs1906262905
NM_000304.4(PMP22):c.438C>T (p.Ala146=)
NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu)
NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)
NM_000304.4(PMP22):c.448G>C (p.Gly150Arg) rs104894624
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) 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.476G>A (p.Arg159His) rs773478255
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.480A>G (p.Glu160=)
NM_000304.4(PMP22):c.481T>C (p.Ter161Arg) rs2150664495
NM_000304.4(PMP22):c.52CTG[1] (p.Leu19del) rs2150710120
NM_000304.4(PMP22):c.52_56delinsGCGATCGTG (p.Leu18fs) rs1909244614
NM_000304.4(PMP22):c.64T>C (p.Ser22Pro)
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.68C>T (p.Thr23Met)
NM_000304.4(PMP22):c.69G>A (p.Thr23=) rs376847762
NM_000304.4(PMP22):c.72C>G (p.Ile24Met) rs371373574
NM_000304.4(PMP22):c.78+16G>A
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.78+2del
NM_000304.4(PMP22):c.78+5G>C rs1174594975
NM_000304.4(PMP22):c.78+7G>A
NM_000304.4(PMP22):c.78+9C>T rs1428777013
NM_000304.4(PMP22):c.79-14C>G
NM_000304.4(PMP22):c.79-16A>C rs373417110
NM_000304.4(PMP22):c.79-16A>G rs373417110
NM_000304.4(PMP22):c.79-4C>A
NM_000304.4(PMP22):c.79-4C>G
NM_000304.4(PMP22):c.79-8C>T rs1597633194
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000304.4(PMP22):c.83G>A (p.Trp28Ter) rs1555568475
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) rs1442525908

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