ClinVar Miner

List of variants in gene MPZ reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) rs147718043
NM_000530.8(MPZ):c.86C>T (p.Ala29Val) rs1553259824

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