ClinVar Miner

List of variants in gene PEX2 reported as likely benign for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000318.2(PEX2):c.*1141G>A rs10108054
NM_000318.2(PEX2):c.*1696C>T rs112199677
NM_000318.2(PEX2):c.*1909G>T rs112352942
NM_000318.2(PEX2):c.*2142A>G rs79700176
NM_000318.2(PEX2):c.*2338C>T rs56231626
NM_000318.2(PEX2):c.*2446C>T rs73242165
NM_000318.2(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.2(PEX2):c.733G>A (p.Ala245Thr) rs112108739

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