List of variants studied for Charcot-Marie-Tooth disease type 1E

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	rs74361095	0.00743
NM_000304.4(PMP22):c.79-6C>T	rs201682989	0.00069
NM_000304.4(PMP22):c.-134G>A	rs754758124	0.00013
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	rs756046682	0.00004
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	rs755701957	0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	rs1022583382	0.00001
GRCh37/hg19 17p12(chr17:14095256-15492591)x3
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)	rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	rs104894623
NM_000304.4(PMP22):c.257_267del (p.Gln86fs)
NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	rs1907114176
NM_000304.4(PMP22):c.281del (p.Gly94fs)	rs80338763
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)	rs786205111
NM_000304.4(PMP22):c.362A>G (p.His121Arg)	rs1567698985
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	rs1555564040
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.82T>C (p.Trp28Arg)	rs104894626

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