ClinVar Miner

List of variants reported as pathogenic for Zellweger syndrome by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652

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