ClinVar Miner

List of variants in gene PEX26 studied for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_001199319.1(PEX26):c.-148C>T rs115617644
NM_001199319.1(PEX26):c.-167C>T rs886057244
NM_017929.5(PEX26):c.668_814del (p.Gly223_Pro271del)
NM_017929.6(PEX26):c.*1003T>G rs79085553
NM_017929.6(PEX26):c.*10C>T rs117472525
NM_017929.6(PEX26):c.*112C>T rs761715161
NM_017929.6(PEX26):c.*1136G>A rs886057251
NM_017929.6(PEX26):c.*113G>A rs199653646
NM_017929.6(PEX26):c.*114C>T rs45500699
NM_017929.6(PEX26):c.*1152G>C rs886057252
NM_017929.6(PEX26):c.*1171G>A rs184116244
NM_017929.6(PEX26):c.*1194G>A rs118188952
NM_017929.6(PEX26):c.*1265T>A rs456551
NM_017929.6(PEX26):c.*1283C>T rs73876563
NM_017929.6(PEX26):c.*133C>T rs200243782
NM_017929.6(PEX26):c.*1532_*1535dup rs361782
NM_017929.6(PEX26):c.*1590G>A rs5992169
NM_017929.6(PEX26):c.*1608G>A rs116824049
NM_017929.6(PEX26):c.*1623G>T rs114698763
NM_017929.6(PEX26):c.*1623_*1626GTTT[7] rs375436648
NM_017929.6(PEX26):c.*1631G>T rs886057254
NM_017929.6(PEX26):c.*1635G>C rs361703
NM_017929.6(PEX26):c.*1661_*1662insACTC rs361571
NM_017929.6(PEX26):c.*1669C>G rs112015789
NM_017929.6(PEX26):c.*167G>A rs464385
NM_017929.6(PEX26):c.*1684T>C rs886057255
NM_017929.6(PEX26):c.*1720G>A rs749348676
NM_017929.6(PEX26):c.*1740C>G rs139987168
NM_017929.6(PEX26):c.*1778C>T rs79447039
NM_017929.6(PEX26):c.*1859A>C rs146739242
NM_017929.6(PEX26):c.*1957G>A rs11913772
NM_017929.6(PEX26):c.*2051A>G rs361946
NM_017929.6(PEX26):c.*2070del rs886057256
NM_017929.6(PEX26):c.*2155A>G rs773334209
NM_017929.6(PEX26):c.*2162G>A rs45489191
NM_017929.6(PEX26):c.*2281T>C rs362209
NM_017929.6(PEX26):c.*2285C>T rs886057257
NM_017929.6(PEX26):c.*2311G>T rs74714634
NM_017929.6(PEX26):c.*2386C>G rs148534099
NM_017929.6(PEX26):c.*2449C>T rs140919342
NM_017929.6(PEX26):c.*2452G>C rs886057258
NM_017929.6(PEX26):c.*2479G>A rs537299090
NM_017929.6(PEX26):c.*2647G>A rs886057259
NM_017929.6(PEX26):c.*2701G>C rs114075265
NM_017929.6(PEX26):c.*2724G>C rs58564536
NM_017929.6(PEX26):c.*2768C>T rs886057260
NM_017929.6(PEX26):c.*2799dup rs751296123
NM_017929.6(PEX26):c.*2807_*2808del rs754613851
NM_017929.6(PEX26):c.*280G>A rs188897908
NM_017929.6(PEX26):c.*2878C>T rs116424707
NM_017929.6(PEX26):c.*400C>T rs74988725
NM_017929.6(PEX26):c.*464A>G rs141229564
NM_017929.6(PEX26):c.*533A>C rs886057247
NM_017929.6(PEX26):c.*568G>A rs886057248
NM_017929.6(PEX26):c.*609_*610GA[3] rs886057249
NM_017929.6(PEX26):c.*692T>C rs79936154
NM_017929.6(PEX26):c.*754A>G rs114146293
NM_017929.6(PEX26):c.*812C>T rs886057250
NM_017929.6(PEX26):c.*828C>T rs551641353
NM_017929.6(PEX26):c.*829A>G rs362057
NM_017929.6(PEX26):c.*912C>T rs79240512
NM_017929.6(PEX26):c.*917C>T rs9605518
NM_017929.6(PEX26):c.*925A>G rs115277831
NM_017929.6(PEX26):c.*943G>A rs79785382
NM_017929.6(PEX26):c.*944C>A rs78412274
NM_017929.6(PEX26):c.*954T>C rs188986907
NM_017929.6(PEX26):c.*977C>T rs181706274
NM_017929.6(PEX26):c.*987T>C rs361807
NM_017929.6(PEX26):c.-115G>C rs138787474
NM_017929.6(PEX26):c.-127G>A rs752393777
NM_017929.6(PEX26):c.-133C>T rs561094254
NM_017929.6(PEX26):c.-82+12A>G rs62239019
NM_017929.6(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_017929.6(PEX26):c.153C>A (p.Phe51Leu) rs777633990
NM_017929.6(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_017929.6(PEX26):c.198C>T (p.Ala66=) rs374290931
NM_017929.6(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_017929.6(PEX26):c.207C>T (p.Ala69=) rs375516973
NM_017929.6(PEX26):c.208G>T (p.Val70Leu) rs766581207
NM_017929.6(PEX26):c.230+1G>T rs267608190
NM_017929.6(PEX26):c.230+8C>T rs886057245
NM_017929.6(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_017929.6(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_017929.6(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_017929.6(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_017929.6(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_017929.6(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_017929.6(PEX26):c.571C>T (p.Arg191Trp) rs150451390
NM_017929.6(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_017929.6(PEX26):c.643G>A (p.Glu215Lys) rs138232280
NM_017929.6(PEX26):c.710G>A (p.Arg237His)
NM_017929.6(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_017929.6(PEX26):c.815-13C>T rs139370593
NM_017929.6(PEX26):c.889C>T (p.Arg297Cys) rs780701336
NM_017929.6(PEX26):c.911G>A (p.Arg304His) rs17851387

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