ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.1208+8G>A rs117036372 0.00009
NM_003906.5(MCM3AP):c.2902G>A (p.Gly968Arg) rs147515617 0.00006
NM_004373.4(COX6A1):c.103+1G>C rs377504835 0.00004
NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala) rs530872313 0.00003
NM_006158.5(NEFL):c.1459G>A (p.Glu487Lys) rs558065942 0.00001
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
NM_001005361.3(DNM2):c.1336-4C>G rs2146038746
NM_002972.4(SBF1):c.3740C>G (p.Ala1247Gly) rs778716220
NM_002972.4(SBF1):c.5470C>T (p.Arg1824Cys) rs547807779
NM_003906.5(MCM3AP):c.10A>C (p.Thr4Pro) rs148481230
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
NM_004208.4(AIFM1):c.511A>C (p.Met171Leu)
NM_006158.5(NEFL):c.786C>T (p.Arg262=)
NM_007289.4(MME):c.1189-4G>A rs182602615
NM_007347.5(AP4E1):c.3249T>G (p.Ile1083Met)
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
NM_014874.4(MFN2):c.1717-5C>T rs1639425658
NM_018706.7(DHTKD1):c.1615G>A (p.Val539Ile)
NM_198681.4(PLEKHG5):c.-120C>T rs201669114

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