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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.206T>C (p.Met69Thr)	rs104894620	0.00001
NM_000304.4(PMP22):c.160_178+78delinsGGAC
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)	rs1555565276
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	rs863225027
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)	rs1597607638
NM_000304.4(PMP22):c.35A>G (p.His12Arg)	rs1909248652
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	rs1555564040
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)	rs1555564040
NM_000304.4(PMP22):c.434T>G (p.Leu145Arg)	rs1906263385
NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu)
NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)	rs104894624
NM_000304.4(PMP22):c.68C>A (p.Thr23Lys)	rs906563423
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)	rs906563423
NM_000304.4(PMP22):c.78+2T>C
NM_000304.4(PMP22):c.78+2del
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	rs104894626

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