ClinVar Miner

Submissions for variant NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)

gnomAD frequency: 0.00001  dbSNP: rs397515419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032935 SCV000056707 pathogenic Peroxisome biogenesis disorder 14B 2012-05-01 no assertion criteria provided literature only

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