List of variants in gene MPZ reported as uncertain significance by Athena Diagnostics

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)	rs1399612102	0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr)	rs997633417	0.00001
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly)	rs1553259811
NM_000530.8(MPZ):c.155_157del (p.Phe52del)	rs1553259786
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)	rs1553259760
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr)	rs2102259788
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu)	rs121913589
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro)	rs145039212
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)	rs2526238338
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala)	rs1571818953
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)	rs2526238022
NM_000530.8(MPZ):c.585-7_585-5del	rs770501358
NM_000530.8(MPZ):c.646-3C>A	rs750756212
NM_000530.8(MPZ):c.646-7C>G	rs377495735
NM_000530.8(MPZ):c.68-3C>A	rs1182729605
NM_000530.8(MPZ):c.68-5T>G	rs1553259835
NM_000530.8(MPZ):c.723G>A (p.Gly241=)
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe)	rs1553259827

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