ClinVar Miner

List of variants reported as likely pathogenic for Zellweger syndrome

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Total variants: 23
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HGVS dbSNP
NC_000007.13:g.(?_92146662_92148110del
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000466.3(PEX1):c.130-1G>T rs1028247729
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1900+1G>A
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.2071+1G>T
NM_000466.3(PEX1):c.2072-42_2085del
NM_000466.3(PEX1):c.2583+1G>T
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2926+2T>C rs267608180
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3207+1G>C
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3637-3_3637-1del

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