ClinVar Miner

List of variants reported as likely pathogenic for Zellweger syndrome by Invitae

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Total variants: 4
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NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460
NM_000466.3(PEX1):c.2926+2T>C rs267608180
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928

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