ClinVar Miner

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

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Gene type:
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Total variants: 84
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HGVS dbSNP
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*83del rs1222938795
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter) rs1597632998
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.11del (p.Leu4fs) rs1597635843
NM_000304.4(PMP22):c.130_131del (p.Thr44fs) rs1597632943
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs) rs1597632913
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter) rs0
NM_000304.4(PMP22):c.174_178+7del rs1597632803
NM_000304.4(PMP22):c.178+1G>C rs1597632815
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.179-13C>G rs0
NM_000304.4(PMP22):c.179-17G>A rs0
NM_000304.4(PMP22):c.179-1G>A rs1597608220
NM_000304.4(PMP22):c.179-1G>C rs1597608220
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) rs1597608203
NM_000304.4(PMP22):c.193G>T (p.Val65Phe) rs1597608152
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.206T>G (p.Met69Arg) rs104894620
NM_000304.4(PMP22):c.227del (p.Ser76fs) rs1597608057
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1]) rs0
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter) rs0
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) rs778693173
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) rs1555565234
NM_000304.4(PMP22):c.289del (p.Tyr97fs) rs1597607713
NM_000304.4(PMP22):c.297del (p.Gly100fs) rs1597607665
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.312del (p.Ala106fs) rs1597607585
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg) rs1597607558
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+16T>G rs751416357
NM_000304.4(PMP22):c.319+1G>A rs1597607514
NM_000304.4(PMP22):c.320-1G>C rs1597597908
NM_000304.4(PMP22):c.320-4C>T rs377467465
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg) rs1597597876
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg) rs1597597821
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs) rs1597597781
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.354G>T (p.Thr118=) rs0
NM_000304.4(PMP22):c.364_365del (p.Pro122fs) rs1597597725
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.367del (p.Glu123fs) rs1597597710
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs0
NM_000304.4(PMP22):c.402C>T (p.Phe134=) rs0
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs0
NM_000304.4(PMP22):c.418T>A (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.433del (p.Leu145fs) rs1567698872
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg) rs1597597445
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs) rs1597597443
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser) rs0
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly) rs28936682
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.477C>T (p.Arg159=) rs0
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg) rs1597635677
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.75_78+2del rs1597635535
NM_000304.4(PMP22):c.76del (p.Ser26fs) rs1597635540
NM_000304.4(PMP22):c.78+1G>T rs1426969421
NM_000304.4(PMP22):c.78+5G>A rs1174594975
NM_000304.4(PMP22):c.79-2A>G rs1597633171
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) rs1442525908
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820
NM_000304.4(PMP22):c.88G>A (p.Val30Met) rs377335295

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