ClinVar Miner

List of variants in gene PEX13, PUS10 studied for Peroxisome biogenesis disorder 11A (Zellweger)

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_144709.4(PUS10):c.-16+254C>G rs147461642 0.00345
NM_002618.4(PEX13):c.18A>G (p.Pro6=) rs769300208 0.00020
NM_144709.4(PUS10):c.-16+255C>T rs200847026 0.00011
NM_002618.4(PEX13):c.24C>A (p.Pro8=) rs774943691 0.00009
NM_002618.4(PEX13):c.9C>T (p.Ser3=) rs745465894 0.00009
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser) rs543856265 0.00007
NM_144709.4(PUS10):c.-16+137C>G rs1303497941 0.00004
NM_002618.4(PEX13):c.54G>A (p.Pro18=) rs1002699754 0.00003
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro) rs1171979724 0.00002
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu) rs1249025009 0.00002
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu) rs898062680 0.00001
NM_002618.4(PEX13):c.1A>G (p.Met1Val) rs1201215154 0.00001
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys) rs1311634962 0.00001
NM_002618.4(PEX13):c.44G>A (p.Arg15His) rs576438646 0.00001
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter) rs1178588746 0.00001
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser) rs1466677796 0.00001
NM_002618.4(PEX13):c.66G>A (p.Pro22=) rs1264694420 0.00001
NM_002618.4(PEX13):c.8C>G (p.Ser3Cys) rs950397917 0.00001
NM_144709.4(PUS10):c.-16+151A>G rs1291662088 0.00001
NC_000002.11:g.(?_61244895)_(61275905_?)del
NC_000002.11:g.(?_61244895)_(61275905_?)dup
NM_002618.4(PEX13):c.12G>A (p.Gln4=)
NM_002618.4(PEX13):c.18A>T (p.Pro6=)
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)
NM_002618.4(PEX13):c.26C>A (p.Pro9His)
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) rs764069625
NM_002618.4(PEX13):c.27C>G (p.Pro9=)
NM_002618.4(PEX13):c.27C>T (p.Pro9=)
NM_002618.4(PEX13):c.27del (p.Lys10fs)
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg) rs1230492316
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala) rs1680108011
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.33C>G (p.Pro11=) rs1680108410
NM_002618.4(PEX13):c.42C>A (p.Thr14=)
NM_002618.4(PEX13):c.45C>G (p.Arg15=) rs1405144717
NM_002618.4(PEX13):c.45C>T (p.Arg15=) rs1405144717
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu) rs2104787557
NM_002618.4(PEX13):c.54G>T (p.Pro18=) rs1002699754
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly) rs2104787633
NM_002618.4(PEX13):c.60C>T (p.Ala20=)
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)
NM_002618.4(PEX13):c.69A>C (p.Gly23=)
NM_002618.4(PEX13):c.69A>T (p.Gly23=)
NM_002618.4(PEX13):c.6G>C (p.Ala2=)
NM_002618.4(PEX13):c.6G>T (p.Ala2=)
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)
NM_002618.4(PEX13):c.84C>T (p.Pro28=)
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn) rs543856265
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.9C>G (p.Ser3=) rs745465894
NM_144709.4(PUS10):c.-16+139G>T
NM_144709.4(PUS10):c.-16+141A>C
NM_144709.4(PUS10):c.-16+142G>A
NM_144709.4(PUS10):c.-16+147C>T rs1387361776
NM_144709.4(PUS10):c.-16+150C>A
NM_144709.4(PUS10):c.-16+260C>T rs886056195

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