ClinVar Miner

List of variants reported as likely benign for Peroxisome biogenesis disorder, complementation group 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 315
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_002617.4(PEX10):c.765G>A (p.Leu255=) rs140133667 0.00035
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_002617.4(PEX10):c.776+8C>T rs370594705 0.00021
NM_002617.4(PEX10):c.894C>T (p.Thr298=) rs138406081 0.00019
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_002617.4(PEX10):c.423G>A (p.Ala141=) rs138171306 0.00014
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln) rs138843050 0.00014
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_002617.4(PEX10):c.776+20A>G rs769793734 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_002617.4(PEX10):c.576C>G (p.Ala192=) rs376805362 0.00008
NM_002617.4(PEX10):c.78G>A (p.Arg26=) rs987035031 0.00008
NM_002617.4(PEX10):c.36C>T (p.Ile12=) rs952907703 0.00007
NM_002617.4(PEX10):c.194-19C>T rs199777923 0.00006
NM_002617.4(PEX10):c.267G>A (p.Ser89=) rs746952615 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441 0.00006
NM_002617.4(PEX10):c.912+17C>T rs757219158 0.00006
NM_002617.4(PEX10):c.51G>A (p.Lys17=) rs777938524 0.00005
NM_002617.4(PEX10):c.601-16G>A rs554294948 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967 0.00004
NM_002617.4(PEX10):c.193+14C>A rs768652461 0.00004
NM_002617.4(PEX10):c.193+15G>A rs745845751 0.00004
NM_002617.4(PEX10):c.601-55G>A rs751098874 0.00004
NM_002617.4(PEX10):c.601-7C>T rs772097260 0.00004
NM_002617.4(PEX10):c.111G>T (p.Ala37=) rs1227962505 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.363C>T (p.Pro121=) rs543982780 0.00003
NM_002617.4(PEX10):c.477G>A (p.Ala159=) rs755353408 0.00003
NM_002617.4(PEX10):c.588G>A (p.Thr196=) rs766103610 0.00003
NM_002617.4(PEX10):c.601-75G>A rs369211467 0.00003
NM_002617.4(PEX10):c.193+8C>T rs371502874 0.00002
NM_002617.4(PEX10):c.194-10T>C rs770764603 0.00002
NM_002617.4(PEX10):c.219C>T (p.Tyr73=) rs531987102 0.00002
NM_002617.4(PEX10):c.447G>A (p.Thr149=) rs759220912 0.00002
NM_002617.4(PEX10):c.513C>T (p.Leu171=) rs772790675 0.00002
NM_002617.4(PEX10):c.597G>A (p.Thr199=) rs750002192 0.00002
NM_002617.4(PEX10):c.600+14G>A rs763465246 0.00002
NM_002617.4(PEX10):c.912+18T>C rs778438020 0.00002
NM_002617.4(PEX10):c.112+11G>T rs1322541651 0.00001
NM_002617.4(PEX10):c.112+15C>A rs1028590508 0.00001
NM_002617.4(PEX10):c.112+16G>A rs755971878 0.00001
NM_002617.4(PEX10):c.114T>G (p.Gly38=) rs1365540789 0.00001
NM_002617.4(PEX10):c.123G>A (p.Lys41=) rs541080552 0.00001
NM_002617.4(PEX10):c.138G>A (p.Arg46=) rs752243854 0.00001
NM_002617.4(PEX10):c.151C>T (p.Leu51=) rs1643147523 0.00001
NM_002617.4(PEX10):c.159A>G (p.Ser53=) rs771349796 0.00001
NM_002617.4(PEX10):c.15C>T (p.Ala5=) rs965470939 0.00001
NM_002617.4(PEX10):c.168C>T (p.Ala56=) rs1343351949 0.00001
NM_002617.4(PEX10):c.180C>T (p.Leu60=) rs145668796 0.00001
NM_002617.4(PEX10):c.194-13C>T rs887880476 0.00001
NM_002617.4(PEX10):c.194-4G>A rs778931694 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 0.00001
NM_002617.4(PEX10):c.205C>T (p.Leu69=) rs1449501202 0.00001
NM_002617.4(PEX10):c.246G>A (p.Ser82=) rs370810788 0.00001
NM_002617.4(PEX10):c.300C>T (p.Ala100=) rs759667036 0.00001
NM_002617.4(PEX10):c.333C>A (p.Leu111=) rs781710848 0.00001
NM_002617.4(PEX10):c.351G>A (p.Leu117=) rs758743429 0.00001
NM_002617.4(PEX10):c.372G>A (p.Gly124=) rs766506813 0.00001
NM_002617.4(PEX10):c.378C>G (p.Pro126=) rs762783424 0.00001
NM_002617.4(PEX10):c.417A>G (p.Ser139=) rs780687424 0.00001
NM_002617.4(PEX10):c.438T>C (p.Arg146=) rs1323790624 0.00001
NM_002617.4(PEX10):c.498C>T (p.Val166=) rs759306542 0.00001
NM_002617.4(PEX10):c.528G>C (p.Arg176=) rs1321961893 0.00001
NM_002617.4(PEX10):c.600+13C>T rs375803322 0.00001
NM_002617.4(PEX10):c.600+19G>A rs776004824 0.00001
NM_002617.4(PEX10):c.601-13A>G rs1443291426 0.00001
NM_002617.4(PEX10):c.601-30C>T rs776096476 0.00001
NM_002617.4(PEX10):c.601-52G>A rs763636557 0.00001
NM_002617.4(PEX10):c.636G>A (p.Arg212=) rs1236839010 0.00001
NM_002617.4(PEX10):c.663G>A (p.Gly221=) rs1292668207 0.00001
NM_002617.4(PEX10):c.690G>A (p.Leu230=) rs755446919 0.00001
NM_002617.4(PEX10):c.776+12G>T rs940264722 0.00001
NM_002617.4(PEX10):c.776+9G>A rs528387404 0.00001
NM_002617.4(PEX10):c.798C>T (p.Ala266=) rs746394182 0.00001
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632 0.00001
NM_002617.4(PEX10):c.834G>A (p.Glu278=) rs542788558 0.00001
NM_002617.4(PEX10):c.84G>A (p.Ala28=) rs1425799977 0.00001
NM_002617.4(PEX10):c.855C>A (p.Ala285=) rs1171635215 0.00001
NM_002617.4(PEX10):c.858G>A (p.Thr286=) rs374678390 0.00001
NM_002617.4(PEX10):c.861C>T (p.Pro287=) rs1417688558 0.00001
NM_002617.4(PEX10):c.888C>T (p.Cys296=) rs1338124684 0.00001
NM_002617.4(PEX10):c.897G>A (p.Ala299=) rs372779905 0.00001
NM_002617.4(PEX10):c.912+13C>G rs753953758 0.00001
NM_002617.4(PEX10):c.913-15T>C rs1553231615 0.00001
NM_002617.4(PEX10):c.913-16T>C rs374203579 0.00001
NM_002617.4(PEX10):c.913-17_913-16del rs764894972 0.00001
NM_002617.4(PEX10):c.913-5C>T rs756094275 0.00001
NM_002617.4(PEX10):c.918G>A (p.Glu306=) rs1316677222 0.00001
NM_002617.4(PEX10):c.924C>A (p.Pro308=) rs1375703281 0.00001
NM_002617.4(PEX10):c.93C>G (p.Gly31=) rs1027184356 0.00001
NM_002617.4(PEX10):c.963C>T (p.Tyr321=) rs780114946 0.00001
NM_002617.4(PEX10):c.97C>T (p.Leu33=) rs994343573 0.00001
NM_002617.4(PEX10):c.980G>A (p.Ter327=) rs1432462972 0.00001
NM_002617.4(PEX10):c.105C>T (p.Ser35=) rs1339846247
NM_002617.4(PEX10):c.112+13C>T
NM_002617.4(PEX10):c.112+15C>T rs1028590508
NM_002617.4(PEX10):c.112+16G>T rs755971878
NM_002617.4(PEX10):c.112+9C>A rs1193998842
NM_002617.4(PEX10):c.112+9C>T rs1193998842
NM_002617.4(PEX10):c.113-11T>C
NM_002617.4(PEX10):c.113-14G>C
NM_002617.4(PEX10):c.113-18T>C
NM_002617.4(PEX10):c.113-19A>G
NM_002617.4(PEX10):c.113-19del
NM_002617.4(PEX10):c.113-4_113-3del rs2100434998
NM_002617.4(PEX10):c.113-5C>G rs2100435004
NM_002617.4(PEX10):c.113-7C>T rs750267481
NM_002617.4(PEX10):c.117G>A (p.Ala39=)
NM_002617.4(PEX10):c.129G>A (p.Leu43=)
NM_002617.4(PEX10):c.12C>A (p.Ala4=)
NM_002617.4(PEX10):c.12C>G (p.Ala4=) rs1570124090
NM_002617.4(PEX10):c.12C>T (p.Ala4=)
NM_002617.4(PEX10):c.153G>C (p.Leu51=)
NM_002617.4(PEX10):c.177C>T (p.Gly59=)
NM_002617.4(PEX10):c.183C>A (p.Thr61=)
NM_002617.4(PEX10):c.18C>A (p.Ala6=)
NM_002617.4(PEX10):c.18C>G (p.Ala6=) rs1643277183
NM_002617.4(PEX10):c.18C>T (p.Ala6=)
NM_002617.4(PEX10):c.193+12C>T
NM_002617.4(PEX10):c.193+14C>T rs768652461
NM_002617.4(PEX10):c.193+16G>A
NM_002617.4(PEX10):c.193+20C>A
NM_002617.4(PEX10):c.193+9del
NM_002617.4(PEX10):c.194-11C>A
NM_002617.4(PEX10):c.194-11C>T
NM_002617.4(PEX10):c.194-13C>G
NM_002617.4(PEX10):c.194-14C>T rs942084685
NM_002617.4(PEX10):c.194-4G>T rs778931694
NM_002617.4(PEX10):c.194-6T>C
NM_002617.4(PEX10):c.194-8C>A rs2100430284
NM_002617.4(PEX10):c.195C>T (p.Gly65=) rs2100430256
NM_002617.4(PEX10):c.204C>G (p.Thr68=)
NM_002617.4(PEX10):c.207G>C (p.Leu69=) rs1321969110
NM_002617.4(PEX10):c.207G>T (p.Leu69=)
NM_002617.4(PEX10):c.213G>A (p.Glu71=)
NM_002617.4(PEX10):c.216G>A (p.Glu72=) rs1643096018
NM_002617.4(PEX10):c.21C>T (p.Ser7=) rs1296095268
NM_002617.4(PEX10):c.222C>T (p.Val74=) rs2100430140
NM_002617.4(PEX10):c.231C>T (p.Ile77=)
NM_002617.4(PEX10):c.246G>C (p.Ser82=) rs370810788
NM_002617.4(PEX10):c.247C>A (p.Arg83=) rs377135853
NM_002617.4(PEX10):c.24C>T (p.Pro8=)
NM_002617.4(PEX10):c.255T>C (p.His85=) rs2100429976
NM_002617.4(PEX10):c.261C>G (p.Pro87=) rs1400578496
NM_002617.4(PEX10):c.261C>T (p.Pro87=)
NM_002617.4(PEX10):c.264C>T (p.Ser88=) rs2100429934
NM_002617.4(PEX10):c.270G>A (p.Leu90=)
NM_002617.4(PEX10):c.291A>T (p.Thr97=) rs2494598
NM_002617.4(PEX10):c.304C>T (p.Leu102=) rs2100429673
NM_002617.4(PEX10):c.306G>A (p.Leu102=)
NM_002617.4(PEX10):c.306G>T (p.Leu102=) rs1381528689
NM_002617.4(PEX10):c.30G>A (p.Glu10=) rs1643274987
NM_002617.4(PEX10):c.327C>G (p.Ala109=) rs2100429553
NM_002617.4(PEX10):c.327C>T (p.Ala109=) rs2100429553
NM_002617.4(PEX10):c.330G>C (p.Leu110=) rs779704977
NM_002617.4(PEX10):c.333C>T (p.Leu111=) rs781710848
NM_002617.4(PEX10):c.336C>A (p.Pro112=) rs1643091255
NM_002617.4(PEX10):c.336C>T (p.Pro112=)
NM_002617.4(PEX10):c.357T>A (p.Ala119=)
NM_002617.4(PEX10):c.366C>T (p.Asp122=) rs1047847063
NM_002617.4(PEX10):c.369T>C (p.Ser123=)
NM_002617.4(PEX10):c.372G>C (p.Gly124=)
NM_002617.4(PEX10):c.378C>T (p.Pro126=) rs762783424
NM_002617.4(PEX10):c.387G>A (p.Gly129=)
NM_002617.4(PEX10):c.390C>T (p.Ser130=) rs1425257705
NM_002617.4(PEX10):c.393G>A (p.Leu131=) rs2100429115
NM_002617.4(PEX10):c.396G>A (p.Gly132=)
NM_002617.4(PEX10):c.399A>G (p.Pro133=)
NM_002617.4(PEX10):c.399A>T (p.Pro133=)
NM_002617.4(PEX10):c.417A>T (p.Ser139=)
NM_002617.4(PEX10):c.426G>A (p.Arg142=) rs2100428915
NM_002617.4(PEX10):c.42G>T (p.Ala14=)
NM_002617.4(PEX10):c.450C>T (p.Ala150=)
NM_002617.4(PEX10):c.459T>C (p.Thr153=)
NM_002617.4(PEX10):c.45G>A (p.Ala15=)
NM_002617.4(PEX10):c.45G>T (p.Ala15=)
NM_002617.4(PEX10):c.465G>A (p.Gln155=)
NM_002617.4(PEX10):c.474G>A (p.Arg158=) rs2100428593
NM_002617.4(PEX10):c.478C>T (p.Leu160=) rs2100428537
NM_002617.4(PEX10):c.484C>A (p.Arg162=)
NM_002617.4(PEX10):c.486G>A (p.Arg162=)
NM_002617.4(PEX10):c.489G>A (p.Ala163=) rs767442631
NM_002617.4(PEX10):c.489G>T (p.Ala163=) rs767442631
NM_002617.4(PEX10):c.492C>G (p.Val164=) rs1557910280
NM_002617.4(PEX10):c.510C>T (p.Gly170=)
NM_002617.4(PEX10):c.522C>T (p.Leu174=) rs1643082506
NM_002617.4(PEX10):c.526C>A (p.Arg176=)
NM_002617.4(PEX10):c.534T>C (p.His178=) rs1570105385
NM_002617.4(PEX10):c.537T>A (p.Val179=)
NM_002617.4(PEX10):c.54C>T (p.Asp18=) rs1570123615
NM_002617.4(PEX10):c.552C>T (p.Ile184=) rs1248786760
NM_002617.4(PEX10):c.558T>C (p.Gly186=)
NM_002617.4(PEX10):c.561C>T (p.Val187=) rs944648966
NM_002617.4(PEX10):c.573G>A (p.Leu191=) rs2100427960
NM_002617.4(PEX10):c.576C>A (p.Ala192=)
NM_002617.4(PEX10):c.582G>A (p.Arg194=) rs2100427884
NM_002617.4(PEX10):c.585C>G (p.Leu195=)
NM_002617.4(PEX10):c.600+11G>A
NM_002617.4(PEX10):c.600+11G>T
NM_002617.4(PEX10):c.600+12G>A
NM_002617.4(PEX10):c.600+16T>C
NM_002617.4(PEX10):c.600+19G>C
NM_002617.4(PEX10):c.600+20G>A
NM_002617.4(PEX10):c.600+8G>A rs2100427732
NM_002617.4(PEX10):c.601-22T>C rs2100423367
NM_002617.4(PEX10):c.601-28G>C
NM_002617.4(PEX10):c.601-31C>T
NM_002617.4(PEX10):c.601-34G>A rs2100423459
NM_002617.4(PEX10):c.601-37C>G
NM_002617.4(PEX10):c.601-43T>C
NM_002617.4(PEX10):c.601-65C>T
NM_002617.4(PEX10):c.601-66T>G
NM_002617.4(PEX10):c.601-67C>T rs2100423613
NM_002617.4(PEX10):c.601-6T>C rs2100423258
NM_002617.4(PEX10):c.601-70A>G rs1643031375
NM_002617.4(PEX10):c.601-75G>T rs369211467
NM_002617.4(PEX10):c.601-76C>T rs373676994
NM_002617.4(PEX10):c.601-79G>A
NM_002617.4(PEX10):c.601-80T>C
NM_002617.4(PEX10):c.603C>A (p.Leu201=)
NM_002617.4(PEX10):c.603C>T (p.Leu201=)
NM_002617.4(PEX10):c.606T>G (p.Arg202=) rs2100423185
NM_002617.4(PEX10):c.618G>A (p.Leu206=)
NM_002617.4(PEX10):c.621C>T (p.Pro207=) rs140107510
NM_002617.4(PEX10):c.624A>G (p.Gly208=) rs765658863
NM_002617.4(PEX10):c.633G>C (p.Leu211=) rs1442790649
NM_002617.4(PEX10):c.639C>T (p.Ala213=)
NM_002617.4(PEX10):c.63C>T (p.Tyr21=) rs2100441307
NM_002617.4(PEX10):c.645T>A (p.Val215=) rs972385999
NM_002617.4(PEX10):c.655C>T (p.Leu219=) rs1643024162
NM_002617.4(PEX10):c.660G>A (p.Leu220=) rs1570100349
NM_002617.4(PEX10):c.663G>T (p.Gly221=) rs1292668207
NM_002617.4(PEX10):c.669C>T (p.Ile223=)
NM_002617.4(PEX10):c.672A>G (p.Ser224=) rs2100422892
NM_002617.4(PEX10):c.675G>A (p.Leu225=) rs1643023305
NM_002617.4(PEX10):c.676C>T (p.Leu226=) rs757071778
NM_002617.4(PEX10):c.678G>A (p.Leu226=)
NM_002617.4(PEX10):c.681C>T (p.His227=)
NM_002617.4(PEX10):c.682C>T (p.Leu228=) rs2100422860
NM_002617.4(PEX10):c.687G>A (p.Val229=)
NM_002617.4(PEX10):c.6C>T (p.Ala2=) rs112471479
NM_002617.4(PEX10):c.700C>T (p.Leu234=)
NM_002617.4(PEX10):c.702G>A (p.Leu234=)
NM_002617.4(PEX10):c.708G>A (p.Leu236=) rs779713764
NM_002617.4(PEX10):c.741G>A (p.Lys247=) rs1335976315
NM_002617.4(PEX10):c.751C>T (p.Leu251=)
NM_002617.4(PEX10):c.756C>T (p.His252=) rs1370683677
NM_002617.4(PEX10):c.759C>T (p.Arg253=) rs767807384
NM_002617.4(PEX10):c.762_776+10dup rs1433344985
NM_002617.4(PEX10):c.763C>T (p.Leu255=) rs1570099784
NM_002617.4(PEX10):c.768T>G (p.Ser256=) rs368439785
NM_002617.4(PEX10):c.776+10G>A rs1241597904
NM_002617.4(PEX10):c.776+11G>C
NM_002617.4(PEX10):c.776+13G>A
NM_002617.4(PEX10):c.776+14C>A
NM_002617.4(PEX10):c.776+15del
NM_002617.4(PEX10):c.776+7G>C rs908929901
NM_002617.4(PEX10):c.776+9G>C rs528387404
NM_002617.4(PEX10):c.777-10C>T rs2100421986
NM_002617.4(PEX10):c.777-12C>T rs2100421995
NM_002617.4(PEX10):c.777-13C>T
NM_002617.4(PEX10):c.777-14C>T
NM_002617.4(PEX10):c.777-15C>T
NM_002617.4(PEX10):c.777-16G>A
NM_002617.4(PEX10):c.777-19T>A
NM_002617.4(PEX10):c.777-20C>T
NM_002617.4(PEX10):c.777-4C>T rs2100421969
NM_002617.4(PEX10):c.777-7T>A
NM_002617.4(PEX10):c.780C>G (p.Ala260=)
NM_002617.4(PEX10):c.786G>A (p.Leu262=)
NM_002617.4(PEX10):c.810C>T (p.Asn270=)
NM_002617.4(PEX10):c.813C>T (p.Pro271=)
NM_002617.4(PEX10):c.816G>A (p.Leu272=)
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961
NM_002617.4(PEX10):c.825G>A (p.Leu275=)
NM_002617.4(PEX10):c.828C>T (p.Cys276=) rs1570098863
NM_002617.4(PEX10):c.831G>A (p.Leu277=)
NM_002617.4(PEX10):c.837G>A (p.Glu279=)
NM_002617.4(PEX10):c.849A>G (p.Pro283=) rs2100421591
NM_002617.4(PEX10):c.84G>C (p.Ala28=)
NM_002617.4(PEX10):c.855C>T (p.Ala285=)
NM_002617.4(PEX10):c.867C>T (p.Gly289=) rs1189215652
NM_002617.4(PEX10):c.87G>A (p.Ala29=) rs1570123397
NM_002617.4(PEX10):c.885G>A (p.Glu295=)
NM_002617.4(PEX10):c.909C>T (p.Ser303=)
NM_002617.4(PEX10):c.90C>A (p.Gly30=) rs1482910211
NM_002617.4(PEX10):c.90C>T (p.Gly30=) rs1482910211
NM_002617.4(PEX10):c.912+10del rs2100421300
NM_002617.4(PEX10):c.912+14C>A rs2100421277
NM_002617.4(PEX10):c.912+19G>C
NM_002617.4(PEX10):c.912+20C>T
NM_002617.4(PEX10):c.913-11C>T
NM_002617.4(PEX10):c.913-14T>C
NM_002617.4(PEX10):c.913-15_913-14del
NM_002617.4(PEX10):c.913-17C>G
NM_002617.4(PEX10):c.913-19C>T
NM_002617.4(PEX10):c.913-20C>T
NM_002617.4(PEX10):c.913-9T>C rs1642980853
NM_002617.4(PEX10):c.924C>T (p.Pro308=)
NM_002617.4(PEX10):c.933G>A (p.Arg311=)
NM_002617.4(PEX10):c.942C>T (p.Phe314=)
NM_002617.4(PEX10):c.945T>C (p.Pro315=)
NM_002617.4(PEX10):c.957C>T (p.Leu319=) rs1458600804
NM_002617.4(PEX10):c.96C>T (p.Ala32=)
NM_002617.4(PEX10):c.978C>G (p.Arg326=)
NM_002617.4(PEX10):c.9G>A (p.Pro3=)
NM_002617.4(PEX10):c.9G>C (p.Pro3=) rs977160082
NM_002617.4(PEX10):c.9G>T (p.Pro3=) rs977160082

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