ClinVar Miner

List of variants reported as pathogenic for Zellweger syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000286.3(PEX12):c.126+1G>T rs144259891
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) rs398123301
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_017929.6(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_017929.6(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093

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