ClinVar Miner

List of variants reported as pathogenic for Zellweger syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093

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