ClinVar Miner

List of variants reported as likely benign for Zellweger syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_000286.3(PEX12):c.*166C>A rs1037590
NM_000286.3(PEX12):c.*297T>C rs113891712
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000286.3(PEX12):c.*636T>C rs111424374
NM_000286.3(PEX12):c.-534C>T rs2278950
NM_000287.4(PEX6):c.*319C>T rs736158
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000318.3(PEX2):c.*1141G>A rs10108054
NM_000318.3(PEX2):c.*1696C>T rs112199677
NM_000318.3(PEX2):c.*1909G>T rs112352942
NM_000318.3(PEX2):c.*2142A>G rs79700176
NM_000318.3(PEX2):c.*2338C>T rs56231626
NM_000318.3(PEX2):c.*2446C>T rs73242165
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000319.4(PEX5):c.*141G>A rs3813737
NM_000319.4(PEX5):c.*628G>A rs12316371
NM_000319.4(PEX5):c.*75G>A rs112966367
NM_000319.4(PEX5):c.*794_*795dup rs112785895
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_001131025.1(PEX5):c.-193T>A rs113752912
NM_001131025.1(PEX5):c.-295T>C rs186539500
NM_001199319.1(PEX26):c.-148C>T rs115617644
NM_002618.4(PEX13):c.*1194G>A rs75205376
NM_002618.4(PEX13):c.*1652G>A rs72877535
NM_002618.4(PEX13):c.*1943G>A rs183689971
NM_002618.4(PEX13):c.*775G>A rs143032208
NM_002857.3(PEX19):c.*1084T>C rs77962224
NM_002857.3(PEX19):c.*2057T>G rs56089807
NM_002857.3(PEX19):c.*2353G>T rs9853
NM_002857.3(PEX19):c.*2637G>A rs41265787
NM_002857.3(PEX19):c.*328A>G rs115260345
NM_002857.3(PEX19):c.*487T>A rs16831724
NM_002857.3(PEX19):c.-14T>G rs2301297
NM_002857.3(PEX19):c.-41C>T rs113442137
NM_002857.3(PEX19):c.181-15A>G rs114403769
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_003630.3(PEX3):c.*546A>G rs10809
NM_003630.3(PEX3):c.-197T>C rs184934783
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353
NM_004813.3(PEX16):c.*587A>G rs72902478
NM_017929.6(PEX26):c.*1003T>G rs79085553
NM_017929.6(PEX26):c.*10C>T rs117472525
NM_017929.6(PEX26):c.*1283C>T rs73876563
NM_017929.6(PEX26):c.*1590G>A rs5992169
NM_017929.6(PEX26):c.*1608G>A rs116824049
NM_017929.6(PEX26):c.*1623G>T rs114698763
NM_017929.6(PEX26):c.*1669C>G rs112015789
NM_017929.6(PEX26):c.*1778C>T rs79447039
NM_017929.6(PEX26):c.*1859A>C rs146739242
NM_017929.6(PEX26):c.*1957G>A rs11913772
NM_017929.6(PEX26):c.*2701G>C rs114075265
NM_017929.6(PEX26):c.*2878C>T rs116424707
NM_017929.6(PEX26):c.*400C>T rs74988725
NM_017929.6(PEX26):c.*464A>G rs141229564
NM_017929.6(PEX26):c.*692T>C rs79936154
NM_017929.6(PEX26):c.*754A>G rs114146293
NM_017929.6(PEX26):c.*917C>T rs9605518
NM_017929.6(PEX26):c.*943G>A rs79785382
NM_017929.6(PEX26):c.*944C>A rs78412274
NM_017929.6(PEX26):c.-115G>C rs138787474
NM_017929.6(PEX26):c.-82+12A>G rs62239019
NM_057174.2(PEX16):c.*211G>C rs143868125
NM_057174.2(PEX16):c.*273C>T rs2280328
NM_057174.2(PEX16):c.-279G>A rs2280330
NM_057174.2(PEX16):c.1034A>C (p.His345Pro) rs79435202
NM_057174.2(PEX16):c.303C>T (p.Ala101=) rs80275010
NM_057174.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_153818.1(PEX10):c.*11G>A rs3795270
NM_153818.1(PEX10):c.279C>T (p.Gly93=) rs1143016
NM_153818.1(PEX10):c.973-4G>A rs11586985

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