ClinVar Miner

List of variants in gene MPZ reported as likely pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.392dup (p.Asn131fs)
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) rs1057518839

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