ClinVar Miner

List of variants reported as pathogenic for Zellweger spectrum disorders by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751

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