ClinVar Miner

List of variants in gene PEX10 reported as likely pathogenic for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_153818.1(PEX10):c.113-1G>A rs867305222
NM_153818.1(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.600+1del rs1553232077
NM_153818.1(PEX10):c.623_624del (p.Leu208fs) rs1553231896
NM_153818.1(PEX10):c.635_636delinsCTC (p.Met212fs) rs1553231888
NM_153818.1(PEX10):c.637_638del (p.Ser213fs) rs1553231875
NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) rs768893724
NM_153818.1(PEX10):c.815_816del (p.His272fs) rs1325771720
NM_153818.1(PEX10):c.821del (p.Gly274fs) rs1553231820
NM_153818.1(PEX10):c.836+2T>A rs1335685844
NM_153818.1(PEX10):c.836+2T>C rs1335685844
NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) rs769251149
NM_153818.1(PEX10):c.851_852AG[2] (p.Arg285fs) rs1553231787
NM_153818.1(PEX10):c.875del (p.Leu292fs) rs1553231783
NM_153818.1(PEX10):c.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739

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