ClinVar Miner

List of variants in gene PEX10 studied for Zellweger syndrome

Included ClinVar conditions (32):
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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP
NC_000001.11:g.(?_2405746)_(2412522_?)del
NC_000001.11:g.(?_2405756)_(2412512_?)del
NM_002617.3(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.3(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.3(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.3(PEX10):c.600+1del rs1553232077
NM_002617.3(PEX10):c.601-24_601-23del rs1553231875
NM_002617.3(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.3(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.3(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.3(PEX10):c.791_792AG[2] (p.Arg265fs) rs1553231787
NM_002617.3(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_002617.3(PEX10):c.855_857dup (p.Thr286dup) rs1553231765
NM_002617.3(PEX10):c.876_878CTG[1] (p.Cys293del) rs1438047457
NM_002617.3(PEX10):c.952_954del (p.Lys318del) rs1553231582
NM_002617.4(PEX10):c.*175T>C
NM_002617.4(PEX10):c.111G>T (p.Ala37=)
NM_002617.4(PEX10):c.112+11G>T
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln)
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523
NM_002617.4(PEX10):c.28dup (p.Glu10fs)
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer)
NM_002617.4(PEX10):c.31G>A (p.Val11Met)
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly)
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg)
NM_002617.4(PEX10):c.417A>G (p.Ser139=) rs780687424
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys)
NM_002617.4(PEX10):c.443A>G (p.His148Arg)
NM_002617.4(PEX10):c.447G>A (p.Thr149=)
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)
NM_002617.4(PEX10):c.488C>T (p.Ala163Val)
NM_002617.4(PEX10):c.513C>T (p.Leu171=) rs772790675
NM_002617.4(PEX10):c.521T>A (p.Leu174His)
NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp)
NM_002617.4(PEX10):c.588G>A (p.Thr196=) rs766103610
NM_002617.4(PEX10):c.601-18G>C
NM_002617.4(PEX10):c.601-3C>T
NM_002617.4(PEX10):c.601-7C>T rs772097260
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510
NM_002617.4(PEX10):c.664dup (p.Val222fs)
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro)
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser)
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)
NM_002617.4(PEX10):c.768T>A (p.Ser256=)
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly)
NM_002617.4(PEX10):c.776+5G>A
NM_002617.4(PEX10):c.776+9G>A rs528387404
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser)
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile)
NM_002617.4(PEX10):c.857C>T (p.Thr286Met)
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
NM_002617.4(PEX10):c.894C>T (p.Thr298=) rs138406081
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu)
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)
NM_153818.1(PEX10):c.*10C>T rs367845280
NM_153818.1(PEX10):c.*11G>A rs3795270
NM_153818.1(PEX10):c.*16G>A rs886046146
NM_153818.1(PEX10):c.*173G>A rs1129171
NM_153818.1(PEX10):c.*304C>T rs758081067
NM_153818.1(PEX10):c.*310G>A rs539850807
NM_153818.1(PEX10):c.*91A>G rs886046145
NM_153818.1(PEX10):c.1027C>T (p.Arg343Trp) rs148903253
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.1039T>C (p.Ter347Arg) rs779199089
NM_153818.1(PEX10):c.1041A>G (p.Ter347Trp) rs1358135448
NM_153818.1(PEX10):c.113-1G>A rs867305222
NM_153818.1(PEX10):c.194-5C>T rs375032738
NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_153818.1(PEX10):c.220G>A (p.Val74Ile) rs768438726
NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_153818.1(PEX10):c.247C>T (p.Arg83Trp) rs377135853
NM_153818.1(PEX10):c.266C>T (p.Ser89Leu) rs769847524
NM_153818.1(PEX10):c.268C>T (p.Leu90=) rs775772867
NM_153818.1(PEX10):c.271C>T (p.Arg91Cys) rs747921371
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.279C>T (p.Gly93=) rs1143016
NM_153818.1(PEX10):c.280G>A (p.Val94Met) rs142626035
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.316C>T (p.Leu106=) rs140340426
NM_153818.1(PEX10):c.318G>A (p.Leu106=) rs146452560
NM_153818.1(PEX10):c.332T>C (p.Leu111Pro) rs35426403
NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) rs76530653
NM_153818.1(PEX10):c.427C>T (p.Arg143Cys) rs199667764
NM_153818.1(PEX10):c.435G>A (p.Met145Ile) rs368273118
NM_153818.1(PEX10):c.495C>T (p.Phe165=) rs150344828
NM_153818.1(PEX10):c.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.601-15G>A rs369211467
NM_153818.1(PEX10):c.623_624del (p.Leu208fs) rs1553231896
NM_153818.1(PEX10):c.634A>G (p.Met212Val) rs144264865
NM_153818.1(PEX10):c.665G>A (p.Arg222His) rs371979619
NM_153818.1(PEX10):c.671G>A (p.Arg224His) rs199934621
NM_153818.1(PEX10):c.687G>A (p.Glu229=) rs141430704
NM_153818.1(PEX10):c.745G>C (p.Val249Leu) rs139345520
NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) rs768893724
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.771C>T (p.Tyr257=) rs761005209
NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) rs61736380
NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) rs61752092
NM_153818.1(PEX10):c.817C>T (p.Arg273Cys) rs756537855
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.825G>A (p.Leu275=) rs140133667
NM_153818.1(PEX10):c.836+2T>A rs1335685844
NM_153818.1(PEX10):c.836+2T>C rs1335685844
NM_153818.1(PEX10):c.836+8C>T rs370594705
NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) rs769251149
NM_153818.1(PEX10):c.872C>T (p.Pro291Leu) rs142088776
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093
NM_153818.1(PEX10):c.876G>T (p.Leu292=) rs144440263
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371
NM_153818.1(PEX10):c.887G>T (p.Cys296Phe) rs1414973726
NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) rs724160000
NM_153818.1(PEX10):c.899G>A (p.Arg300His) rs758678654
NM_153818.1(PEX10):c.903G>A (p.Arg301=) rs35082957
NM_153818.1(PEX10):c.928C>G (p.His310Asp) rs61752094
NM_153818.1(PEX10):c.956C>T (p.Ala319Val) rs78620392
NM_153818.1(PEX10):c.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739
NM_153818.1(PEX10):c.973-2A>C rs758250423
NM_153818.1(PEX10):c.973-4G>A rs11586985
NM_153818.1(PEX10):c.975G>A (p.Ala325=) rs374891812
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001
PEX10, 2-BP DEL, 814CT
PEX10, DEL/INS/FS, NT13

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