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: 55
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HGVS dbSNP
NM_000304.4(PMP22):c.*83del
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>C
NM_000304.4(PMP22):c.179-2A>G
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
NM_000304.4(PMP22):c.227del (p.Ser76fs)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
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.289del (p.Tyr97fs)
NM_000304.4(PMP22):c.297del (p.Gly100fs)
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.364_365del (p.Pro122fs)
NM_000304.4(PMP22):c.367del (p.Glu123fs)
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.440T>G (p.Leu147Arg)
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
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+5G>A
NM_000304.4(PMP22):c.79-2A>G
NM_000304.4(PMP22):c.88G>A (p.Val30Met)

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