ClinVar Miner

List of variants in gene combination PEX13, PUS10 reported as likely benign for Peroxisome biogenesis disorder 11A (Zellweger)

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Total variants: 27
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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_002618.4(PEX13):c.24C>A (p.Pro8=) rs774943691 0.00009
NM_002618.4(PEX13):c.9C>T (p.Ser3=) rs745465894 0.00009
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.66G>A (p.Pro22=) rs1264694420 0.00001
NM_002618.4(PEX13):c.12G>A (p.Gln4=)
NM_002618.4(PEX13):c.18A>T (p.Pro6=)
NM_002618.4(PEX13):c.27C>G (p.Pro9=)
NM_002618.4(PEX13):c.27C>T (p.Pro9=)
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.54G>T (p.Pro18=) rs1002699754
NM_002618.4(PEX13):c.60C>T (p.Ala20=)
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.84C>T (p.Pro28=)
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+147C>T rs1387361776
NM_144709.4(PUS10):c.-16+150C>A

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