ClinVar Miner

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

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.392dup (p.Asn131fs)
NM_000530.8(MPZ):c.603dup (p.Leu202fs)
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) rs1057518839

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