ClinVar Miner

List of variants in gene PEX5 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_000319.4(PEX5):c.*1080T>C rs755972180
NM_000319.4(PEX5):c.*1089T>C rs886049834
NM_000319.4(PEX5):c.*1134T>A rs769928491
NM_000319.4(PEX5):c.*1134T>C rs769928491
NM_000319.4(PEX5):c.*1134dup rs11448434
NM_000319.4(PEX5):c.*1139T>C rs886049836
NM_000319.4(PEX5):c.*1251G>A rs538222740
NM_000319.4(PEX5):c.*1259G>C rs148385560
NM_000319.4(PEX5):c.*132C>G rs753013794
NM_000319.4(PEX5):c.*141G>A rs3813737
NM_000319.4(PEX5):c.*179A>G rs192786621
NM_000319.4(PEX5):c.*1C>T rs886049827
NM_000319.4(PEX5):c.*322C>T rs764082627
NM_000319.4(PEX5):c.*403C>T rs886049828
NM_000319.4(PEX5):c.*446_*452dup rs771366153
NM_000319.4(PEX5):c.*452G>C rs185474091
NM_000319.4(PEX5):c.*462G>C rs75145323
NM_000319.4(PEX5):c.*495G>A rs776371289
NM_000319.4(PEX5):c.*627C>T rs146897980
NM_000319.4(PEX5):c.*628G>A rs12316371
NM_000319.4(PEX5):c.*677G>T rs886049830
NM_000319.4(PEX5):c.*722G>A rs886049831
NM_000319.4(PEX5):c.*755C>G rs1057225
NM_000319.4(PEX5):c.*75G>A rs112966367
NM_000319.4(PEX5):c.*794_*795dup rs112785895
NM_000319.4(PEX5):c.*81A>C rs183460108
NM_000319.4(PEX5):c.*891A>G rs371691416
NM_000319.4(PEX5):c.*960C>G rs78134587
NM_000319.4(PEX5):c.*991_*992dup rs886049833
NM_000319.4(PEX5):c.1255C>T (p.Arg419Ter) rs61752137
NM_000319.4(PEX5):c.1497C>T (p.Ala499=) rs150761638
NM_000319.4(PEX5):c.1498G>A (p.Val500Met) rs138028549
NM_000319.4(PEX5):c.1535A>G (p.Asn512Ser) rs139364109
NM_000319.4(PEX5):c.1554T>G (p.Asn518Lys) rs61752138
NM_000319.4(PEX5):c.1563C>T (p.Gly521=) rs144401814
NM_000319.4(PEX5):c.1608G>A (p.Ala536=) rs115338343
NM_000319.4(PEX5):c.1612C>T (p.Arg538Cys)
NM_000319.4(PEX5):c.1623C>G (p.Leu541=) rs753512677
NM_000319.4(PEX5):c.1629C>G (p.Leu543=) rs200215904
NM_000319.4(PEX5):c.164G>T (p.Gly55Val)
NM_000319.4(PEX5):c.1694+13A>G rs116873137
NM_000319.4(PEX5):c.1713T>C (p.Phe571=) rs753159772
NM_000319.4(PEX5):c.1790G>A (p.Ser597Asn) rs146567534
NM_000319.4(PEX5):c.1826G>C (p.Ser609Thr) rs751637149
NM_000319.4(PEX5):c.1849G>A (p.Ala617Thr) rs143600154
NM_000319.4(PEX5):c.1851G>A (p.Ala617=) rs371233272
NM_000319.4(PEX5):c.1878G>A (p.Met626Ile) rs145886418
NM_000319.4(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_000319.4(PEX5):c.371C>G (p.Ala124Gly) rs143307183
NM_000319.4(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_000319.4(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_000319.4(PEX5):c.551+15C>T rs886049825
NM_000319.4(PEX5):c.552-7G>A rs189631769
NM_000319.4(PEX5):c.604G>C (p.Val202Leu) rs149102738
NM_000319.4(PEX5):c.643-5C>T rs886049826
NM_000319.4(PEX5):c.754-4G>A rs111286659
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000319.4(PEX5):c.885T>C (p.Ala295=) rs376649488
NM_000319.4(PEX5):c.942+3G>A rs373763823
NM_000319.4(PEX5):c.943-15G>A rs201341037
NM_001131023.1(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001131025.1(PEX5):c.-145G>A rs542096066
NM_001131025.1(PEX5):c.-193T>A rs113752912
NM_001131025.1(PEX5):c.-210G>T rs117442311
NM_001131025.1(PEX5):c.-243G>A rs754651589
NM_001131025.1(PEX5):c.-295T>C rs186539500
NM_001131025.1(PEX5):c.-298T>C rs779168691
NM_001131025.1(PEX5):c.-332G>A rs146875386
NM_001131025.1(PEX5):c.-443T>C rs796452917
NM_001131025.1(PEX5):c.-462_-461insCCG rs886049824
NM_001131025.1(PEX5):c.-486C>G rs12227917
NM_001131025.1(PEX5):c.-515G>T rs886049823
NM_001131025.1(PEX5):c.-519T>C rs770339670
NM_001131025.1(PEX5):c.-521C>G rs886049822
NM_001131025.1(PEX5):c.-535C>T rs886049821

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