List of variants in gene PMP22 reported as pathogenic for Charcot-Marie-Tooth disease, type IA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
NC_000017.10:g.(?_15133094)_(15164078_?)dup
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000017.11:g.15133096_15164093dup
NM_000304.4(PMP22):c.206T>A (p.Met69Lys)	rs104894620
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)	rs104894621
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.35A>G (p.His12Arg)	rs1909248652
NM_000304.4(PMP22):c.434del (p.Leu145fs)	rs863225029
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	rs104894625

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