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

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		ClinVar version:

Total variants: 72

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
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_001127649.3(PEX26):c.292C>T (p.Arg98Trp)	rs62641228	0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs)	rs61750435	0.00008
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)	rs61752123	0.00006
NM_000466.3(PEX1):c.2926+1G>A	rs267608179	0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	rs61752093	0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	rs61750418	0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	rs61753245	0.00004
NM_000286.3(PEX12):c.126+1G>T	rs144259891	0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	rs61752103	0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)	rs61752105	0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)	rs61752092	0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	rs724160001	0.00003
NM_000466.3(PEX1):c.1239+1G>T	rs756876301	0.00002
NM_000466.3(PEX1):c.130-1G>T	rs1028247729	0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	rs398123408	0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	rs749067142	0.00002
NM_002617.4(PEX10):c.600+1G>A	rs267608183	0.00002
NM_000286.3(PEX12):c.744dup (p.Thr249fs)	rs61752108	0.00001
NM_000288.4(PEX7):c.130+1G>A	rs267608253	0.00001
NM_000288.4(PEX7):c.188+1G>C	rs267608254	0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	rs121909154	0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs)	rs61753248	0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg)	rs62653611	0.00001
NM_000318.3(PEX2):c.-17-2A>G	rs1289852067	0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	rs61752124	0.00001
NM_000466.3(PEX1):c.1126del (p.Glu376fs)	rs751829426	0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	rs61750422	0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)	rs61752136	0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)	rs61750434	0.00001
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)	rs267608184
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)	rs61752100
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	rs776731688
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.887del (p.Leu296fs)
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	rs398123301
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs)	rs774131564
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)	rs62653604
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)	rs61753233
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)	rs61752122
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)	rs2132044384
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	rs764771123
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)	rs786204606
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)	rs267608178
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs)	rs61750426
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)	rs1562846113
NM_000466.3(PEX1):c.358-1G>T	rs1057517479
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	rs769836601
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	rs201415996
NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)
NM_001127649.3(PEX26):c.230+1G>A
NM_001127649.3(PEX26):c.230+1G>T	rs267608190
NM_001127649.3(PEX26):c.34del (p.Leu12fs)	rs61752129
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)	rs61752129
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	rs61752138
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.337del (p.Leu113fs)	rs724159999
NM_002617.4(PEX10):c.4del (p.Ala2fs)	rs62636524
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)	rs62641225
NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)

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