List of variants in gene PMP22 reported as uncertain significance for Dejerine-Sottas disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)	rs940401899
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)	rs1597608086
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)	rs104894621
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)	rs1597608049
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)	rs863225027
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)	rs1597607967
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)	rs1597607967
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del)	rs1597607920
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)	rs1597607651
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)	rs1597607638
NM_000304.4(PMP22):c.36C>A (p.His12Gln)	rs104894622
NM_000304.4(PMP22):c.418_438del (p.Trp140_Ala146del)	rs2150664583
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)	rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)	rs879253954
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)	rs1597635666

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