ClinVar Miner

List of variants in gene PEX26 reported as pathogenic for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_017929.5(PEX26):c.230+1G>T rs267608190
NM_017929.5(PEX26):c.254dup (p.Cys86Valfs) rs61752133
NM_017929.5(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_017929.5(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_017929.5(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_017929.5(PEX26):c.34dupC (p.Leu12Profs) rs61752129
NM_017929.5(PEX26):c.668_814del (p.Gly223_Pro271del)

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