ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NM_000304.3(PMP22):c.-223C>T rs549380262
NM_000304.4(PMP22):c.*1049C>G rs750733887
NM_000304.4(PMP22):c.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.*83del
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.*985C>T rs886052610
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.11del (p.Leu4fs)
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.174_178+7del
NM_000304.4(PMP22):c.178+1G>C
NM_000304.4(PMP22):c.179-1G>A
NM_000304.4(PMP22):c.179-1G>C
NM_000304.4(PMP22):c.179-2A>G
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
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.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
NM_000304.4(PMP22):c.227del (p.Ser76fs)
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)
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
NM_000304.4(PMP22):c.297del (p.Gly100fs)
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.312del (p.Ala106fs)
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)
NM_000304.4(PMP22):c.318del (p.Gly107fs)
NM_000304.4(PMP22):c.319+16T>G
NM_000304.4(PMP22):c.319+1G>A
NM_000304.4(PMP22):c.320-1G>C
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
NM_000304.4(PMP22):c.367del (p.Glu123fs)
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
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>G (p.Arg157Gly)
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.75_78+2del
NM_000304.4(PMP22):c.76del (p.Ser26fs)
NM_000304.4(PMP22):c.78+1G>T
NM_000304.4(PMP22):c.78+3G>T
NM_000304.4(PMP22):c.78+5G>A
NM_000304.4(PMP22):c.79-2A>G
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
NM_153321.3(PMP22):c.433dup (p.Leu145fs)
PMP22, 1.1- to 1.5-MB DEL
PMP22, 1.4-MB DUP
PMP22, 1.4-MB TRIPLICATION

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