ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) rs201338900 0.00004
NM_001376.5(DYNC1H1):c.2539-10C>A rs1372571783 0.00001
NM_030973.4(MED25):c.1086C>T (p.Pro362=) rs780086993 0.00001
NM_002693.3(POLG):c.2982G>C (p.Trp994Cys) rs1596350885
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) rs1597597437
NM_030973.4(MED25):c.305+14C>G rs773627830
NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro) rs1166140426

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