ClinVar Miner

List of variants reported as 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: 42
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HGVS dbSNP
NM_000286.3(PEX12):c.*517A>G rs1046321
NM_000286.3(PEX12):c.*836G>C rs10068
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.-428T>C rs321600
NM_000287.3(PEX6):c.-55C>T rs9462859
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.4(PEX6):c.883-3T>C rs9986447
NM_000318.3(PEX2):c.*1194A>G rs4311633
NM_000318.3(PEX2):c.*2377A>G rs4388434
NM_000318.3(PEX2):c.*2663T>A rs28435921
NM_000318.3(PEX2):c.*727T>C rs4610720
NM_000318.3(PEX2):c.-164C>A rs12718
NM_000319.4(PEX5):c.*1134dup rs11448434
NM_000319.4(PEX5):c.*755C>G rs1057225
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.358-15G>A rs38809
NM_001131025.1(PEX5):c.-486C>G rs12227917
NM_002618.4(PEX13):c.*2147A>G rs2564097
NM_002618.4(PEX13):c.*358G>A rs1177230
NM_002618.4(PEX13):c.*952C>T rs56739127
NM_002857.3(PEX19):c.*2156C>G rs10594
NM_003630.3(PEX3):c.*319A>T rs223234
NM_003630.3(PEX3):c.942-13A>G rs161058
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375
NM_004565.3(PEX14):c.384+14A>T rs284238
NM_017929.6(PEX26):c.*1265T>A rs456551
NM_017929.6(PEX26):c.*1532_*1535dup rs361782
NM_017929.6(PEX26):c.*1635G>C rs361703
NM_017929.6(PEX26):c.*1661_*1662insACTC rs361571
NM_017929.6(PEX26):c.*167G>A rs464385
NM_017929.6(PEX26):c.*2051A>G rs361946
NM_017929.6(PEX26):c.*2281T>C rs362209
NM_017929.6(PEX26):c.*829A>G rs362057
NM_017929.6(PEX26):c.*987T>C rs361807
NM_057174.2(PEX16):c.*138C>T rs10838529
NM_057174.2(PEX16):c.*434G>A rs2280329
NM_057174.2(PEX16):c.873T>C (p.Tyr291=) rs1132349
NM_153818.1(PEX10):c.*173G>A rs1129171
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598

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