List of variants in gene PMP22 reported as pathogenic for Hereditary liability to pressure palsies

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)	rs587776691
NM_000304.4(PMP22):c.281dup (p.Arg95fs)	rs80338763
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	rs104894625

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