ClinVar Miner

List of variants in gene PEX2 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_000318.3(PEX2):c.*319A>G rs78045204 0.00610
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.*1842G>C rs184573256 0.00523
NM_000318.3(PEX2):c.*1040C>G rs139337482 0.00490
NM_000318.3(PEX2):c.*2443A>G rs76770837 0.00372
NM_000318.3(PEX2):c.*789C>T rs144050052 0.00361
NM_000318.3(PEX2):c.*1174A>G rs562263817 0.00343
NM_000318.3(PEX2):c.*1448C>T rs184740361 0.00303
NM_000318.3(PEX2):c.*1012C>T rs181539288 0.00300
NM_000318.3(PEX2):c.*2894T>C rs569387185 0.00257
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000318.3(PEX2):c.*659C>G rs551943990 0.00148
NM_000318.3(PEX2):c.*1716A>G rs192555214 0.00107
NM_000318.3(PEX2):c.-183G>T rs568404564 0.00106
NM_000318.3(PEX2):c.*1765G>A rs60300869 0.00063
NM_000318.3(PEX2):c.*2057G>A rs568202276 0.00052
NM_000318.3(PEX2):c.*2004C>T rs117344716 0.00048
NM_000318.3(PEX2):c.*233C>G rs190595998 0.00046
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00043
NM_000318.3(PEX2):c.*1858G>A rs777834563 0.00031
NM_000318.3(PEX2):c.*1749A>T rs556984036 0.00029
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_000318.3(PEX2):c.*1400A>G rs1002618013 0.00016
NM_000318.3(PEX2):c.*2518C>T rs886063124 0.00016
NM_000318.3(PEX2):c.*1854A>C rs886063127 0.00014
NM_000318.3(PEX2):c.*595C>T rs754113775 0.00013
NM_000318.3(PEX2):c.*2519G>A rs1005895700 0.00012
NM_000318.3(PEX2):c.*596G>A rs139852334 0.00012
NM_000318.3(PEX2):c.*40G>A rs148915806 0.00011
NM_000318.3(PEX2):c.*1755A>G rs886063129 0.00009
NM_000318.3(PEX2):c.*2973T>C rs751974703 0.00009
NM_000318.3(PEX2):c.*627G>T rs145960090 0.00008
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_000318.3(PEX2):c.*1370A>G rs886063131 0.00006
NM_000318.3(PEX2):c.*1561G>A rs886063130 0.00006
NM_000318.3(PEX2):c.*489C>T rs886063136 0.00006
NM_000318.3(PEX2):c.*705T>A rs569163196 0.00005
NM_000318.3(PEX2):c.*1331T>C rs950900674 0.00004
NM_000318.3(PEX2):c.*1602A>G rs557330187 0.00004
NM_000318.3(PEX2):c.*1808C>A rs980881594 0.00004
NM_000318.3(PEX2):c.*2294C>G rs763651452 0.00004
NM_000318.3(PEX2):c.*394T>C rs1010520129 0.00004
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115 0.00004
NM_000318.3(PEX2):c.*1047T>A rs886063133 0.00003
NM_000318.3(PEX2):c.*2920_*2922del rs746335104 0.00003
NM_000318.3(PEX2):c.*437T>C rs1210536989 0.00003
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys) rs147209403 0.00003
NM_000318.3(PEX2):c.*1581T>A rs1214852177 0.00001
NM_000318.3(PEX2):c.*2456C>T rs1461205423 0.00001
NM_000318.3(PEX2):c.*2787G>A rs886063123 0.00001
NM_000318.3(PEX2):c.*324G>T rs886063137 0.00001
NM_000318.3(PEX2):c.*498G>A rs541772029 0.00001
NM_000318.3(PEX2):c.*773T>G rs927177664 0.00001
NM_000318.3(PEX2):c.*91A>G rs886063139 0.00001
NM_000318.3(PEX2):c.-178C>T rs886063141 0.00001
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) rs1475014070 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000318.3(PEX2):c.*103C>G rs529963492
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1319A>T rs912151931
NM_000318.3(PEX2):c.*1466ATT[1] rs552746754
NM_000318.3(PEX2):c.*1606T>G rs1276104967
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2404A>G rs1806798109
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2700G>T rs1806788065
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*419T>G rs1806878211
NM_000318.3(PEX2):c.*645G>T rs1806867628
NM_000318.3(PEX2):c.*780T>A rs1806859817
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg) rs1427212561
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503

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.