List of variants in gene PMP22 reported as likely pathogenic by Athena Diagnostics Inc

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.138del (p.Ser47fs)	rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	rs104894623
NM_000304.4(PMP22):c.228C>G (p.Ser76Arg)	rs1555565283
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	rs863225027
NM_000304.4(PMP22):c.431C>G (p.Pro144Arg)	rs1555564032

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