ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder, complementation group 7 by Invitae

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ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu) rs142088776 0.00034
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg) rs138489241 0.00025
NM_002617.4(PEX10):c.116C>T (p.Ala39Val) rs149421567 0.00024
NM_002617.4(PEX10):c.424C>T (p.Arg142Trp) rs372914003 0.00016
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002617.4(PEX10):c.967C>T (p.Arg323Trp) rs148903253 0.00014
NM_002617.4(PEX10):c.361C>A (p.Pro121Thr) rs1056200158 0.00011
NM_002617.4(PEX10):c.583C>T (p.Leu195Phe) rs116354317 0.00011
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_002617.4(PEX10):c.895G>A (p.Ala299Thr) rs371030713 0.00010
NM_002617.4(PEX10):c.220G>A (p.Val74Ile) rs768438726 0.00009
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys) rs199667764 0.00009
NM_002617.4(PEX10):c.641G>A (p.Arg214His) rs368143757 0.00009
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser) rs761942658 0.00009
NM_002617.4(PEX10):c.527G>A (p.Arg176Gln) rs184150138 0.00007
NM_002617.4(PEX10):c.605G>A (p.Arg202His) rs371979619 0.00006
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00006
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro) rs780507609 0.00006
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile) rs199683357 0.00006
NM_002617.4(PEX10):c.839G>A (p.Arg280His) rs758678654 0.00006
NM_002617.4(PEX10):c.428G>A (p.Arg143His) rs766596553 0.00005
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp) rs780485807 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_002617.4(PEX10):c.960C>G (p.Ile320Met) rs371260973 0.00005
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp) rs377135853 0.00004
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00004
NM_002617.4(PEX10):c.407G>A (p.Arg136His) rs745469808 0.00004
NM_002617.4(PEX10):c.773G>A (p.Arg258His) rs773147980 0.00004
NM_002617.4(PEX10):c.776+5G>A rs747776170 0.00004
NM_002617.4(PEX10):c.959T>C (p.Ile320Thr) rs769097644 0.00004
NM_002617.4(PEX10):c.446C>T (p.Thr149Met) rs764948458 0.00003
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup) rs1432526114 0.00003
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp) rs745818681 0.00003
NM_002617.4(PEX10):c.758G>A (p.Arg253His) rs750769868 0.00003
NM_002617.4(PEX10):c.296A>G (p.His99Arg) rs764465144 0.00002
NM_002617.4(PEX10):c.364G>A (p.Asp122Asn) rs375855913 0.00002
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys) rs772618705 0.00002
NM_002617.4(PEX10):c.484C>T (p.Arg162Trp) rs570706924 0.00002
NM_002617.4(PEX10):c.556G>A (p.Gly186Ser) rs147848221 0.00002
NM_002617.4(PEX10):c.596C>T (p.Thr199Met) rs373559391 0.00002
NM_002617.4(PEX10):c.766T>A (p.Ser256Thr) rs532149116 0.00002
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp) rs747171383 0.00002
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys) rs1208669638 0.00002
NM_002617.4(PEX10):c.857C>T (p.Thr286Met) rs774205482 0.00002
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser) rs556603981 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002617.4(PEX10):c.120G>T (p.Arg40Ser) rs1363831554 0.00001
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln) rs372894429 0.00001
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu) rs769847524 0.00001
NM_002617.4(PEX10):c.272G>A (p.Arg91His) rs778774616 0.00001
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala) rs1367685379 0.00001
NM_002617.4(PEX10):c.307C>G (p.Pro103Ala) rs1299562078 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.344A>G (p.Gln115Arg) rs778031802 0.00001
NM_002617.4(PEX10):c.371G>A (p.Gly124Glu) rs1169193497 0.00001
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg) rs1425257705 0.00001
NM_002617.4(PEX10):c.421G>A (p.Ala141Thr) rs747538698 0.00001
NM_002617.4(PEX10):c.422C>T (p.Ala141Val) rs778322648 0.00001
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys) rs1184194956 0.00001
NM_002617.4(PEX10):c.437G>A (p.Arg146His) rs1471507257 0.00001
NM_002617.4(PEX10):c.43G>A (p.Ala15Thr) rs1438725093 0.00001
NM_002617.4(PEX10):c.449C>T (p.Ala150Val) rs776218721 0.00001
NM_002617.4(PEX10):c.488C>T (p.Ala163Val) rs750507518 0.00001
NM_002617.4(PEX10):c.496G>A (p.Val166Ile) rs368864383 0.00001
NM_002617.4(PEX10):c.538G>T (p.Ala180Ser) rs769189410 0.00001
NM_002617.4(PEX10):c.601-18G>C rs149822209 0.00001
NM_002617.4(PEX10):c.601-33G>A rs1187656235 0.00001
NM_002617.4(PEX10):c.601-39C>T rs1469160710 0.00001
NM_002617.4(PEX10):c.601-3C>G rs369643163 0.00001
NM_002617.4(PEX10):c.601-56C>T rs761449217 0.00001
NM_002617.4(PEX10):c.601-63C>T rs1172587431 0.00001
NM_002617.4(PEX10):c.623G>A (p.Gly208Glu) rs753300436 0.00001
NM_002617.4(PEX10):c.668T>C (p.Ile223Thr) rs780850148 0.00001
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro) rs746710198 0.00001
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu) rs372574195 0.00001
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly) rs1424367364 0.00001
NM_002617.4(PEX10):c.719G>A (p.Arg240Lys) rs1419912761 0.00001
NM_002617.4(PEX10):c.751C>A (p.Leu251Met) rs1355235678 0.00001
NM_002617.4(PEX10):c.835G>A (p.Glu279Lys) rs62641225 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.8C>G (p.Pro3Arg) rs528381804 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002617.4(PEX10):c.913-3C>T rs777570617 0.00001
NM_002617.4(PEX10):c.919T>C (p.Cys307Arg) rs1418762869 0.00001
NM_002617.4(PEX10):c.922C>T (p.Pro308Ser) rs1402121158 0.00001
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp) rs765965290 0.00001
NM_002617.4(PEX10):c.940T>C (p.Phe314Leu) rs148057567 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NC_000001.10:g.(?_1724664)_(2338414_?)dup
NC_000001.10:g.(?_2337205)_(2343941_?)dup
NM_002617.4(PEX10):c.102C>G (p.His34Gln)
NM_002617.4(PEX10):c.104G>C (p.Ser35Thr) rs2100441138
NM_002617.4(PEX10):c.105C>G (p.Ser35Arg) rs1339846247
NM_002617.4(PEX10):c.107T>G (p.Leu36Arg)
NM_002617.4(PEX10):c.10G>A (p.Ala4Thr)
NM_002617.4(PEX10):c.110C>A (p.Ala37Glu) rs2100441107
NM_002617.4(PEX10):c.122A>T (p.Lys41Met) rs112163061
NM_002617.4(PEX10):c.148G>A (p.Glu50Lys)
NM_002617.4(PEX10):c.14C>T (p.Ala5Val)
NM_002617.4(PEX10):c.160G>A (p.Asp54Asn) rs1289859085
NM_002617.4(PEX10):c.160G>C (p.Asp54His)
NM_002617.4(PEX10):c.163G>A (p.Val55Met)
NM_002617.4(PEX10):c.178C>A (p.Leu60Ile)
NM_002617.4(PEX10):c.178C>T (p.Leu60Phe) rs2100434691
NM_002617.4(PEX10):c.191C>G (p.Ala64Gly)
NM_002617.4(PEX10):c.202A>T (p.Thr68Ser)
NM_002617.4(PEX10):c.209G>T (p.Gly70Val) rs1643096230
NM_002617.4(PEX10):c.20G>A (p.Ser7Asn)
NM_002617.4(PEX10):c.22C>A (p.Pro8Thr)
NM_002617.4(PEX10):c.22C>T (p.Pro8Ser)
NM_002617.4(PEX10):c.235G>A (p.Val79Met)
NM_002617.4(PEX10):c.23C>A (p.Pro8His) rs2100441590
NM_002617.4(PEX10):c.250A>G (p.Ile84Val)
NM_002617.4(PEX10):c.263C>A (p.Ser88Tyr) rs913840649
NM_002617.4(PEX10):c.266C>G (p.Ser89Trp) rs769847524
NM_002617.4(PEX10):c.26C>A (p.Pro9Gln)
NM_002617.4(PEX10):c.271C>A (p.Arg91Ser) rs747921371
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly) rs1214996893
NM_002617.4(PEX10):c.274C>T (p.Arg92Cys) rs1214996893
NM_002617.4(PEX10):c.280G>C (p.Val94Leu) rs142626035
NM_002617.4(PEX10):c.290_291inv (p.Thr97Met)
NM_002617.4(PEX10):c.297T>G (p.His99Gln)
NM_002617.4(PEX10):c.299_300delinsAT (p.Ala100Asp) rs2100429705
NM_002617.4(PEX10):c.29A>G (p.Glu10Gly) rs1367685379
NM_002617.4(PEX10):c.301G>A (p.Val101Ile)
NM_002617.4(PEX10):c.310T>G (p.Tyr104Asp)
NM_002617.4(PEX10):c.313C>G (p.Leu105Val) rs1450880054
NM_002617.4(PEX10):c.31G>A (p.Val11Met) rs1643274878
NM_002617.4(PEX10):c.338T>A (p.Leu113Gln) rs757778155
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly) rs554490737
NM_002617.4(PEX10):c.353A>C (p.Gln118Pro)
NM_002617.4(PEX10):c.358G>C (p.Asp120His) rs2100429329
NM_002617.4(PEX10):c.361C>T (p.Pro121Ser) rs1056200158
NM_002617.4(PEX10):c.374G>A (p.Arg125Gln)
NM_002617.4(PEX10):c.380T>C (p.Leu127Ser)
NM_002617.4(PEX10):c.394G>C (p.Gly132Arg)
NM_002617.4(PEX10):c.406C>T (p.Arg136Cys)
NM_002617.4(PEX10):c.416C>T (p.Ser139Leu)
NM_002617.4(PEX10):c.41C>T (p.Ala14Val)
NM_002617.4(PEX10):c.422C>A (p.Ala141Glu)
NM_002617.4(PEX10):c.431G>C (p.Trp144Ser) rs760785367
NM_002617.4(PEX10):c.434T>C (p.Met145Thr)
NM_002617.4(PEX10):c.436C>G (p.Arg146Gly) rs1184194956
NM_002617.4(PEX10):c.444C>A (p.His148Gln)
NM_002617.4(PEX10):c.446C>G (p.Thr149Arg) rs764948458
NM_002617.4(PEX10):c.44C>T (p.Ala15Val)
NM_002617.4(PEX10):c.452C>T (p.Thr151Ile)
NM_002617.4(PEX10):c.475G>C (p.Ala159Pro)
NM_002617.4(PEX10):c.476C>T (p.Ala159Val)
NM_002617.4(PEX10):c.479T>C (p.Leu160Pro) rs199877853
NM_002617.4(PEX10):c.4G>T (p.Ala2Ser) rs770336711
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg) rs1643273662
NM_002617.4(PEX10):c.514G>A (p.Ala172Thr)
NM_002617.4(PEX10):c.526C>T (p.Arg176Trp)
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.566A>G (p.Tyr189Cys) rs1278563588
NM_002617.4(PEX10):c.57G>C (p.Glu19Asp)
NM_002617.4(PEX10):c.589G>A (p.Gly197Arg) rs1397641277
NM_002617.4(PEX10):c.600C>T (p.Tyr200=)
NM_002617.4(PEX10):c.601-1G>C
NM_002617.4(PEX10):c.601-23G>A rs1643028725
NM_002617.4(PEX10):c.601-25G>A
NM_002617.4(PEX10):c.601-29T>C rs1195070492
NM_002617.4(PEX10):c.601-36A>T rs891345902
NM_002617.4(PEX10):c.601-42C>A rs1164836731
NM_002617.4(PEX10):c.601-72_601-71del
NM_002617.4(PEX10):c.601-76C>G
NM_002617.4(PEX10):c.601C>G (p.Leu201Val)
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser) rs149615608
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys) rs149615608
NM_002617.4(PEX10):c.605G>C (p.Arg202Pro)
NM_002617.4(PEX10):c.610C>T (p.Arg204Cys)
NM_002617.4(PEX10):c.611G>C (p.Arg204Pro)
NM_002617.4(PEX10):c.619C>T (p.Pro207Ser)
NM_002617.4(PEX10):c.61T>C (p.Tyr21His) rs2100441317
NM_002617.4(PEX10):c.632T>C (p.Leu211Pro)
NM_002617.4(PEX10):c.638C>T (p.Ala213Val)
NM_002617.4(PEX10):c.640C>G (p.Arg214Gly)
NM_002617.4(PEX10):c.643G>A (p.Val215Ile)
NM_002617.4(PEX10):c.64C>T (p.Arg22Cys)
NM_002617.4(PEX10):c.67G>A (p.Gly23Ser)
NM_002617.4(PEX10):c.688C>A (p.Leu230Met) rs1208421193
NM_002617.4(PEX10):c.68G>A (p.Gly23Asp) rs753786568
NM_002617.4(PEX10):c.68G>C (p.Gly23Ala)
NM_002617.4(PEX10):c.695T>C (p.Met232Thr)
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser) rs61736380
NM_002617.4(PEX10):c.729G>C (p.Gln243His) rs2100422638
NM_002617.4(PEX10):c.731G>A (p.Arg244Gln)
NM_002617.4(PEX10):c.737G>A (p.Arg246Lys) rs1335499698
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002617.4(PEX10):c.742G>A (p.Glu248Lys)
NM_002617.4(PEX10):c.744G>C (p.Glu248Asp)
NM_002617.4(PEX10):c.749G>A (p.Arg250Lys)
NM_002617.4(PEX10):c.757C>G (p.Arg253Gly)
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys) rs756537855
NM_002617.4(PEX10):c.758G>T (p.Arg253Leu) rs750769868
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly) rs760632208
NM_002617.4(PEX10):c.772C>T (p.Arg258Cys)
NM_002617.4(PEX10):c.776+4C>G
NM_002617.4(PEX10):c.776+4C>T rs374719922
NM_002617.4(PEX10):c.778G>C (p.Ala260Pro)
NM_002617.4(PEX10):c.77G>A (p.Arg26Gln)
NM_002617.4(PEX10):c.785T>G (p.Leu262Trp) rs748829349
NM_002617.4(PEX10):c.787GAG[1] (p.Glu264del)
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser) rs1643011506
NM_002617.4(PEX10):c.799G>A (p.Val267Ile)
NM_002617.4(PEX10):c.811C>T (p.Pro271Ser) rs886043542
NM_002617.4(PEX10):c.817T>C (p.Cys273Arg)
NM_002617.4(PEX10):c.817T>G (p.Cys273Gly) rs747389749
NM_002617.4(PEX10):c.841A>G (p.Arg281Gly) rs2100421628
NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)
NM_002617.4(PEX10):c.8C>T (p.Pro3Leu)
NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)
NM_002617.4(PEX10):c.908G>C (p.Ser303Thr) rs2100421331
NM_002617.4(PEX10):c.911A>G (p.Lys304Arg)
NM_002617.4(PEX10):c.912+8G>A
NM_002617.4(PEX10):c.913G>A (p.Ala305Thr) rs2100419175
NM_002617.4(PEX10):c.914C>T (p.Ala305Val)
NM_002617.4(PEX10):c.926T>A (p.Leu309His) rs1175081963
NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)
NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)
NM_002617.4(PEX10):c.92G>A (p.Gly31Asp) rs1643271462
NM_002617.4(PEX10):c.931C>G (p.Arg311Gly) rs765965290
NM_002617.4(PEX10):c.944C>G (p.Pro315Arg) rs2100418995
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser) rs1642979023
NM_002617.4(PEX10):c.952A>G (p.Lys318Glu) rs762351770
NM_002617.4(PEX10):c.953A>G (p.Lys318Arg) rs995942123
NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)
NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)
NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)
NM_002617.4(PEX10):c.9_17del (p.Ala4_Ala6del) rs2100441672

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