List of variants in gene PMP22 studied for Charcot-Marie-Tooth disease type 1

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 20

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HGVS	dbSNP
NC_000017.11:g.15133096_15164093dup
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)	rs797044846
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	rs756046682
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	rs104894623
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	rs863225027
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)	rs104894618
NM_000304.4(PMP22):c.281del (p.Gly94fs)	rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs)	rs80338763
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)	rs786205111
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.434del (p.Leu145fs)	rs863225029
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.478G>A (p.Glu160Lys)	rs1022583382
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	rs104894626
PMP22, 1.4-MB DUP
PMP22, 1.4-MB TRIPLICATION

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