List of variants in gene PMP22 reported by GeneReviews

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

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NC_000017.11:g.(?_14440201)_(15475424_?)dup
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.281dup (p.Arg95fs)	rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs)	rs1597607713
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	rs28936682
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

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