List of variants in gene MPZ reported as pathogenic by Inherited Neuropathy Consortium

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.1A>G (p.Met1Val)	rs1427063795	0.00001
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)	rs760730366
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)	rs1571819946
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)	rs1571819906
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)	rs1553259703
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs)	rs1571818248
NM_000530.8(MPZ):c.560del (p.Gln187fs)	rs1571817966
NM_000530.8(MPZ):c.574_575del (p.Arg192fs)	rs1571817911
NM_000530.8(MPZ):c.646-10_650del	rs863225026
NM_000530.8(MPZ):c.68-5_71del	rs1571820401

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