ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder 11A (Zellweger) by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959 0.00002
NM_002618.4(PEX13):c.201dup (p.Val68fs) rs1288976071 0.00001
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185 0.00001
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter) rs1178588746 0.00001
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) rs1428782325 0.00001
NC_000002.11:g.(?_61244895)_(61275905_?)del
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
NM_002618.4(PEX13):c.148del (p.Arg50fs)
NM_002618.4(PEX13):c.159_160del (p.Pro54fs) rs2104803205
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
NM_002618.4(PEX13):c.27del (p.Lys10fs)
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
NM_002618.4(PEX13):c.431del (p.Ser144fs)
NM_002618.4(PEX13):c.499del (p.His167fs) rs2104803491
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)
NM_002618.4(PEX13):c.829dup (p.Ala277fs) rs2104812709
NM_002618.4(PEX13):c.855del (p.Val286fs)
NM_002618.4(PEX13):c.871del (p.Ile291fs)

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