ClinVar Miner

List of variants reported as uncertain significance for Zellweger syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
Download table as spreadsheet
HGVS dbSNP
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser)
NM_000287.4(PEX6):c.1236G>A (p.Val412=)
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg)
NM_000287.4(PEX6):c.1935A>C (p.Ala645=)
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254
NM_000287.4(PEX6):c.2094+4G>A
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg)
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390
NM_000318.3(PEX2):c.915T>A (p.Leu305=)
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467
NM_000466.3(PEX1):c.129+8G>A
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)
NM_000466.3(PEX1):c.1587+5T>C rs199526105
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe)
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val)
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2926+4A>G
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
NM_000466.3(PEX1):c.3208-3T>C
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
NM_000466.3(PEX1):c.472+5G>A
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523
NM_002617.4(PEX10):c.533A>G (p.His178Arg)
NM_002617.4(PEX10):c.601-3C>G
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441
NM_002617.4(PEX10):c.776+5G>A
NM_002617.4(PEX10):c.776+9G>A rs528387404
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg)
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687
NM_002617.4(PEX10):c.913-9T>C
NM_153818.1(PEX10):c.316C>T (p.Leu106=) rs140340426
NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) rs76530653
NM_153818.1(PEX10):c.427C>T (p.Arg143Cys) rs199667764
NM_153818.1(PEX10):c.634A>G (p.Met212Val) rs144264865
NM_153818.1(PEX10):c.665G>A (p.Arg222His) rs371979619
NM_153818.1(PEX10):c.700C>T (p.Arg234Cys) rs536486149
NM_153818.1(PEX10):c.899G>A (p.Arg300His) rs758678654
NM_153818.1(PEX10):c.975G>A (p.Ala325=) rs374891812
NM_153818.2(PEX10):c.266C>T rs769847524

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.