ClinVar Miner

List of variants in gene PEX10 studied for Zellweger syndrome

Included ClinVar conditions (31):
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Gene type:
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Total variants: 66
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HGVS dbSNP
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.1012_1014delAAG (p.Lys338del) rs1553231582
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.233A>G (p.Gln78Arg) rs766966222
NM_153818.1(PEX10):c.26delC (p.Pro9Argfs) rs1553232917
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.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.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.600+1delG rs1553232077
NM_153818.1(PEX10):c.601-15G>A rs369211467
NM_153818.1(PEX10):c.623_624delTC (p.Leu208Glnfs) rs1553231896
NM_153818.1(PEX10):c.635_636delTGinsCTC (p.Met212Thrfs) rs1553231888
NM_153818.1(PEX10):c.637_638delAG (p.Ser213Cysfs) rs1553231875
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.745G>C (p.Val249Leu) rs139345520
NM_153818.1(PEX10):c.752_763del12 (p.Ser251_Arg346del) rs768893724
NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) 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.815_816delAC (p.His272Profs) rs1325771720
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.821delG (p.Gly274Alafs) rs1553231820
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.855_856delAG (p.Arg285Serfs) rs1553231787
NM_153818.1(PEX10):c.874_875delCT (p.Leu292Valfs) rs61752093
NM_153818.1(PEX10):c.875delT (p.Leu292Argfs) rs1553231783
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.903G>A (p.Arg301=) rs35082957
NM_153818.1(PEX10):c.915_917dup (p.Thr306_Pro307insThr) rs1553231765
NM_153818.1(PEX10):c.928C>G (p.His310Asp) rs61752094
NM_153818.1(PEX10):c.939_941delCTG (p.Cys313del) rs1438047457
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.992G>A (p.Arg331Gln) rs724160001
NM_153818.1:c.551delT
PEX10, 2-BP DEL, 814CT
PEX10, DEL/INS/FS, NT13

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