ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder 1B

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Total variants: 6
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NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2926+1G>A rs267608179
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989

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