ClinVar Miner

List of variants in gene PEX1 reported as uncertain significance for Zellweger syndrome

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NC_000007.14:g.(?_92487437)_(92487561_?)del
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.-19A>G rs368326503
NM_000466.3(PEX1):c.-43T>G rs572810743
NM_000466.3(PEX1):c.-45T>C rs886062509
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.-77C>G
NM_000466.3(PEX1):c.-82C>G
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.122_124TGC[3] (p.Leu42dup) rs1554378340
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.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1360-4G>T rs199716270
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1524_1529AAAAGA[1] (p.508_509EK[1]) rs1554373613
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.1587+5T>C rs199526105
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser) rs1053943553
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1671-13A>G
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr)
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407
NM_000466.3(PEX1):c.1804-12A>G
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1901-14T>C
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)
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.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala)
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-9del rs886062504
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
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.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg)
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547

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