ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002

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