ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00018
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) rs267608212
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) rs1769818844
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)

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