ClinVar Miner

List of variants in gene PEX16 studied for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_004813.2(PEX16):c.-164G>T rs773746164
NM_004813.2(PEX16):c.-184A>G rs745333570
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-279G>A rs2280330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.3(PEX16):c.*587A>G rs72902478
NM_057174.2(PEX16):c.*112C>T rs886048326
NM_057174.2(PEX16):c.*138C>T rs10838529
NM_057174.2(PEX16):c.*144G>C rs886048325
NM_057174.2(PEX16):c.*159G>A rs879320611
NM_057174.2(PEX16):c.*176C>T rs559300237
NM_057174.2(PEX16):c.*211G>A rs143868125
NM_057174.2(PEX16):c.*211G>C rs143868125
NM_057174.2(PEX16):c.*273C>T rs2280328
NM_057174.2(PEX16):c.*326G>A rs886048324
NM_057174.2(PEX16):c.*392G>C rs770223341
NM_057174.2(PEX16):c.*434G>A rs2280329
NM_057174.2(PEX16):c.1034A>C (p.His345Pro) rs79435202
NM_057174.2(PEX16):c.204G>T (p.Glu68Asp) rs149348130
NM_057174.2(PEX16):c.303C>T (p.Ala101=) rs80275010
NM_057174.2(PEX16):c.348C>T (p.Ile116=) rs886048328
NM_057174.2(PEX16):c.360-7G>A rs202161790
NM_057174.2(PEX16):c.461A>G (p.Asp154Gly) rs140695185
NM_057174.2(PEX16):c.526C>T (p.Arg176Ter) rs61752117
NM_057174.2(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_057174.2(PEX16):c.609C>T (p.His203=) rs537046144
NM_057174.2(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_057174.2(PEX16):c.694+11C>T rs763840804
NM_057174.2(PEX16):c.695-6C>T rs372182266
NM_057174.2(PEX16):c.699C>T (p.Leu233=) rs781411790
NM_057174.2(PEX16):c.726G>A (p.Ser242=) rs200414298
NM_057174.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_057174.2(PEX16):c.873T>C (p.Tyr291=) rs1132349
NM_057174.2(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_057174.2(PEX16):c.946G>A (p.Val316Ile) rs775371916
NM_057174.2(PEX16):c.953-12T>C rs16938413
NM_057174.2(PEX16):c.953-86T>C rs144897515
NM_057174.2(PEX16):c.983C>T (p.Pro328Leu) rs201513691
PEX16, IVSDS10, T-C, +2

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