List of variants studied for Peroxisome biogenesis disorder 7A

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 130

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HGVS	dbSNP
NC_000022.11:g.18077922T>C	rs0
NC_000022.11:g.18077926G>A	rs0
NC_000022.11:g.18077965G>T	rs0
NM_001127649.3(PEX26):c.*1003T>G	rs79085553
NM_001127649.3(PEX26):c.*10C>T	rs117472525
NM_001127649.3(PEX26):c.*112C>T	rs761715161
NM_001127649.3(PEX26):c.*1136G>A	rs886057251
NM_001127649.3(PEX26):c.*113G>A	rs199653646
NM_001127649.3(PEX26):c.*114C>T	rs45500699
NM_001127649.3(PEX26):c.*1152G>C	rs886057252
NM_001127649.3(PEX26):c.*1156T>C	rs0
NM_001127649.3(PEX26):c.*1171G>A	rs184116244
NM_001127649.3(PEX26):c.*1194G>A	rs118188952
NM_001127649.3(PEX26):c.*122A>C	rs0
NM_001127649.3(PEX26):c.*1265T>A	rs456551
NM_001127649.3(PEX26):c.*1283C>T	rs73876563
NM_001127649.3(PEX26):c.*133C>T	rs200243782
NM_001127649.3(PEX26):c.*1488T>C	rs0
NM_001127649.3(PEX26):c.*1493C>G	rs0
NM_001127649.3(PEX26):c.*1509C>G	rs0
NM_001127649.3(PEX26):c.*1590G>A	rs5992169
NM_001127649.3(PEX26):c.*1608G>A	rs116824049
NM_001127649.3(PEX26):c.*1618G>C	rs0
NM_001127649.3(PEX26):c.*1623G>T	rs114698763
NM_001127649.3(PEX26):c.*1627G>T	rs0
NM_001127649.3(PEX26):c.*1631G>T	rs886057254
NM_001127649.3(PEX26):c.*1635G>C	rs361703
NM_001127649.3(PEX26):c.*1639G>T	rs0
NM_001127649.3(PEX26):c.*1669C>G	rs112015789
NM_001127649.3(PEX26):c.*167G>A	rs464385
NM_001127649.3(PEX26):c.*1684T>C	rs886057255
NM_001127649.3(PEX26):c.*1720G>A	rs749348676
NM_001127649.3(PEX26):c.*1740C>G	rs139987168
NM_001127649.3(PEX26):c.*1778C>T	rs79447039
NM_001127649.3(PEX26):c.*1859A>C	rs146739242
NM_001127649.3(PEX26):c.*1922C>T	rs0
NM_001127649.3(PEX26):c.*1928A>C	rs0
NM_001127649.3(PEX26):c.*1957G>A	rs11913772
NM_001127649.3(PEX26):c.*1957G>T	rs0
NM_001127649.3(PEX26):c.*2051A>G	rs361946
NM_001127649.3(PEX26):c.*2155A>G	rs773334209
NM_001127649.3(PEX26):c.*2162G>A	rs45489191
NM_001127649.3(PEX26):c.*2195A>G	rs0
NM_001127649.3(PEX26):c.*2281T>C	rs362209
NM_001127649.3(PEX26):c.*2282G>A	rs0
NM_001127649.3(PEX26):c.*2285C>T	rs886057257
NM_001127649.3(PEX26):c.*2308A>T	rs0
NM_001127649.3(PEX26):c.*2311G>T	rs74714634
NM_001127649.3(PEX26):c.*2339G>A	rs0
NM_001127649.3(PEX26):c.*2369C>G	rs0
NM_001127649.3(PEX26):c.*2370T>A	rs0
NM_001127649.3(PEX26):c.*2386C>G	rs148534099
NM_001127649.3(PEX26):c.*2449C>T	rs140919342
NM_001127649.3(PEX26):c.*2452G>C	rs886057258
NM_001127649.3(PEX26):c.*2479G>A	rs537299090
NM_001127649.3(PEX26):c.*2523C>T	rs0
NM_001127649.3(PEX26):c.*2604G>C	rs0
NM_001127649.3(PEX26):c.*2647G>A	rs886057259
NM_001127649.3(PEX26):c.*2651C>T	rs0
NM_001127649.3(PEX26):c.*2701G>C	rs114075265
NM_001127649.3(PEX26):c.*2703G>A	rs0
NM_001127649.3(PEX26):c.*2724G>C	rs58564536
NM_001127649.3(PEX26):c.*2768C>T	rs886057260
NM_001127649.3(PEX26):c.*279G>A	rs0
NM_001127649.3(PEX26):c.*280G>A	rs188897908
NM_001127649.3(PEX26):c.*2810G>C	rs0
NM_001127649.3(PEX26):c.*2878C>T	rs116424707
NM_001127649.3(PEX26):c.*2904T>C	rs0
NM_001127649.3(PEX26):c.*36G>A	rs0
NM_001127649.3(PEX26):c.*400C>T	rs74988725
NM_001127649.3(PEX26):c.*439C>G	rs0
NM_001127649.3(PEX26):c.*464A>G	rs141229564
NM_001127649.3(PEX26):c.*533A>C	rs886057247
NM_001127649.3(PEX26):c.*566T>C	rs0
NM_001127649.3(PEX26):c.*568G>A	rs886057248
NM_001127649.3(PEX26):c.*578A>G	rs0
NM_001127649.3(PEX26):c.*662C>T	rs0
NM_001127649.3(PEX26):c.*692T>C	rs79936154
NM_001127649.3(PEX26):c.*754A>G	rs114146293
NM_001127649.3(PEX26):c.*802A>G	rs0
NM_001127649.3(PEX26):c.*812C>T	rs886057250
NM_001127649.3(PEX26):c.*828C>T	rs551641353
NM_001127649.3(PEX26):c.*829A>G	rs362057
NM_001127649.3(PEX26):c.*829A>T	rs0
NM_001127649.3(PEX26):c.*917C>T	rs9605518
NM_001127649.3(PEX26):c.*925A>G	rs115277831
NM_001127649.3(PEX26):c.*943G>A	rs79785382
NM_001127649.3(PEX26):c.*944C>A	rs78412274
NM_001127649.3(PEX26):c.*954T>C	rs188986907
NM_001127649.3(PEX26):c.*977C>T	rs181706274
NM_001127649.3(PEX26):c.*987T>C	rs361807
NM_001127649.3(PEX26):c.-318A>G	rs62239019
NM_001127649.3(PEX26):c.-363G>C	rs138787474
NM_001127649.3(PEX26):c.-375G>A	rs752393777
NM_001127649.3(PEX26):c.-381C>T	rs561094254
NM_001127649.3(PEX26):c.-80C>T	rs0
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)	rs150895887
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	rs61752132
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu)	rs777633990
NM_001127649.3(PEX26):c.198C>T (p.Ala66=)	rs374290931
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)	rs201884779
NM_001127649.3(PEX26):c.207C>T (p.Ala69=)	rs375516973
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu)	rs766581207
NM_001127649.3(PEX26):c.230+1G>T	rs267608190
NM_001127649.3(PEX26):c.230+8C>T	rs886057245
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)	rs61752133
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	rs28940308
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter)	rs62641229
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val)	rs768425084
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)	rs74315506
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)	rs45567240
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)	rs200279475
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)	rs61752129
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)	rs142648687
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)	rs12484657
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val)	rs370147115
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp)	rs150451390
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter)	rs886057246
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)	rs138232280
NM_001127649.3(PEX26):c.667+8A>G	rs200880379
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys)	rs0
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)	rs149153003
NM_001127649.3(PEX26):c.814+15C>T	rs0
NM_001127649.3(PEX26):c.815-13C>T	rs139370593
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys)	rs780701336
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)	rs17851387
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)	rs368118099
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)	rs0

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