ClinVar Miner

List of variants reported as likely pathogenic for Peripheral neuropathy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004373.4(COX6A1):c.103+1G>C rs377504835 0.00004
NM_000166.6(GJB1):c.218A>G (p.His73Arg) rs748384293
NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)
NM_000304.4(PMP22):c.55dup (p.Leu19fs) rs2150710134
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
NM_000530.8(MPZ):c.646-2A>C rs1670228122

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