ClinVar Miner

List of variants in gene PEX16 reported as likely benign for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 307
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.*587A>G rs72902478 0.06684
NM_004813.2(PEX16):c.-279G>A rs2280330 0.02963
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_004813.4(PEX16):c.*10C>T rs201127195 0.00197
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_004813.4(PEX16):c.543G>A (p.Thr181=) rs144063598 0.00044
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_004813.4(PEX16):c.695-15C>T rs187663300 0.00036
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_004813.4(PEX16):c.846C>T (p.Leu282=) rs148019119 0.00026
NM_004813.4(PEX16):c.887+9C>A rs370590743 0.00026
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) rs144897515 0.00024
NM_004813.4(PEX16):c.24C>T (p.Gly8=) rs368789483 0.00017
NM_004813.4(PEX16):c.726G>A (p.Ser242=) rs200414298 0.00016
NM_004813.4(PEX16):c.999C>T (p.Tyr333=) rs146657010 0.00016
NM_004813.4(PEX16):c.768-20A>G rs368734262 0.00012
NM_004813.4(PEX16):c.635C>G (p.Pro212Arg) rs201846257 0.00011
NM_004813.4(PEX16):c.952+19G>A rs369341299 0.00011
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_004813.4(PEX16):c.960C>T (p.Leu320=) rs370792374 0.00009
NM_004813.4(PEX16):c.360-7G>A rs202161790 0.00007
NM_004813.4(PEX16):c.702C>T (p.Ser234=) rs138485159 0.00007
NM_004813.4(PEX16):c.225+18A>T rs369008253 0.00006
NM_004813.4(PEX16):c.360-18A>C rs376700606 0.00006
NM_004813.4(PEX16):c.423C>T (p.Ile141=) rs754277134 0.00006
NM_004813.4(PEX16):c.654C>G (p.Thr218=) rs372347595 0.00006
NM_004813.4(PEX16):c.103C>T (p.Leu35=) rs1427588700 0.00004
NM_004813.4(PEX16):c.186C>T (p.Asp62=) rs757594159 0.00004
NM_004813.4(PEX16):c.18C>G (p.Leu6=) rs921940265 0.00004
NM_004813.4(PEX16):c.252A>G (p.Thr84=) rs367893667 0.00004
NM_004813.4(PEX16):c.113-4C>T rs199760503 0.00003
NM_004813.4(PEX16):c.180C>T (p.Leu60=) rs779326282 0.00003
NM_004813.4(PEX16):c.273C>T (p.Cys91=) rs146476007 0.00003
NM_004813.4(PEX16):c.694+12G>A rs766275337 0.00003
NM_004813.4(PEX16):c.694+14G>A rs750448293 0.00003
NM_004813.4(PEX16):c.888-7C>T rs890395851 0.00003
NM_004813.4(PEX16):c.921C>T (p.Ala307=) rs377151998 0.00003
NM_004813.4(PEX16):c.952+8G>T rs756773793 0.00003
NM_004813.4(PEX16):c.148+10G>A rs189736132 0.00002
NM_004813.4(PEX16):c.149-13C>G rs369471815 0.00002
NM_004813.4(PEX16):c.27C>T (p.Leu9=) rs913040375 0.00002
NM_004813.4(PEX16):c.546G>A (p.Pro182=) rs1026595479 0.00002
NM_004813.4(PEX16):c.609C>T (p.His203=) rs537046144 0.00002
NM_004813.4(PEX16):c.657C>T (p.Ile219=) rs200522601 0.00002
NM_004813.4(PEX16):c.695-5G>A rs775367961 0.00002
NM_004813.4(PEX16):c.699C>T (p.Leu233=) rs781411790 0.00002
NM_004813.4(PEX16):c.759C>T (p.Asp253=) rs774788367 0.00002
NM_004813.4(PEX16):c.768-12C>T rs773840409 0.00002
NM_004813.4(PEX16):c.885C>T (p.Ser295=) rs200415017 0.00002
NM_004813.4(PEX16):c.957G>A (p.Pro319=) rs751904831 0.00002
NM_004813.4(PEX16):c.112+18G>C rs2086852660 0.00001
NM_004813.4(PEX16):c.148+7C>T rs1001236613 0.00001
NM_004813.4(PEX16):c.149-20G>A rs746963607 0.00001
NM_004813.4(PEX16):c.165C>T (p.Asn55=) rs746381331 0.00001
NM_004813.4(PEX16):c.226-12G>A rs770166678 0.00001
NM_004813.4(PEX16):c.360-5C>A rs748034237 0.00001
NM_004813.4(PEX16):c.360-8C>T rs1285530111 0.00001
NM_004813.4(PEX16):c.42C>T (p.Tyr14=) rs376366140 0.00001
NM_004813.4(PEX16):c.444C>G (p.Thr148=) rs1278944049 0.00001
NM_004813.4(PEX16):c.460+20C>A rs749438800 0.00001
NM_004813.4(PEX16):c.498C>T (p.Tyr166=) rs918637787 0.00001
NM_004813.4(PEX16):c.542-4C>G rs755666423 0.00001
NM_004813.4(PEX16):c.612G>A (p.Glu204=) rs758739455 0.00001
NM_004813.4(PEX16):c.624G>A (p.Ala208=) rs1198584811 0.00001
NM_004813.4(PEX16):c.633C>T (p.Thr211=) rs1320072269 0.00001
NM_004813.4(PEX16):c.675T>A (p.Ile225=) rs757682196 0.00001
NM_004813.4(PEX16):c.684G>A (p.Pro228=) rs777904359 0.00001
NM_004813.4(PEX16):c.711G>A (p.Leu237=) rs763743599 0.00001
NM_004813.4(PEX16):c.888-18A>C rs779536979 0.00001
NM_004813.4(PEX16):c.930C>T (p.Val310=) rs766416680 0.00001
NM_004813.4(PEX16):c.952+20C>T rs781618336 0.00001
NM_004813.4(PEX16):c.996C>T (p.Phe332=) rs200546977 0.00001
NM_004813.4(PEX16):c.102C>T (p.Tyr34=) rs1293863814
NM_004813.4(PEX16):c.106C>T (p.Leu36=)
NM_004813.4(PEX16):c.10C>T (p.Leu4=)
NM_004813.4(PEX16):c.112+20T>C
NM_004813.4(PEX16):c.112+9C>G
NM_004813.4(PEX16):c.112+9C>T rs1275087272
NM_004813.4(PEX16):c.113-10C>G
NM_004813.4(PEX16):c.113-10C>T rs1414680049
NM_004813.4(PEX16):c.113-11C>G
NM_004813.4(PEX16):c.113-11C>T rs550316466
NM_004813.4(PEX16):c.113-15G>A
NM_004813.4(PEX16):c.113-15_113-7del rs1184476774
NM_004813.4(PEX16):c.113-18T>C
NM_004813.4(PEX16):c.113-18_113-16del
NM_004813.4(PEX16):c.113-20C>T
NM_004813.4(PEX16):c.113-21_113-19del
NM_004813.4(PEX16):c.113-5C>T rs2134699177
NM_004813.4(PEX16):c.113-6C>A
NM_004813.4(PEX16):c.113-9T>C
NM_004813.4(PEX16):c.120C>T (p.Phe40=)
NM_004813.4(PEX16):c.129G>A (p.Ser43=)
NM_004813.4(PEX16):c.129G>T (p.Ser43=)
NM_004813.4(PEX16):c.12G>T (p.Leu4=)
NM_004813.4(PEX16):c.138G>A (p.Leu46=)
NM_004813.4(PEX16):c.13C>A (p.Arg5=)
NM_004813.4(PEX16):c.148+10G>C
NM_004813.4(PEX16):c.148+13C>G
NM_004813.4(PEX16):c.148+18G>A
NM_004813.4(PEX16):c.148+18G>T
NM_004813.4(PEX16):c.148+19G>A
NM_004813.4(PEX16):c.148+9G>T rs905516268
NM_004813.4(PEX16):c.149-11C>T
NM_004813.4(PEX16):c.149-14T>C
NM_004813.4(PEX16):c.149-15C>G
NM_004813.4(PEX16):c.149-15CT[2]
NM_004813.4(PEX16):c.149-5C>G rs768446035
NM_004813.4(PEX16):c.149-7C>T
NM_004813.4(PEX16):c.149-9A>G
NM_004813.4(PEX16):c.153C>T (p.Tyr51=)
NM_004813.4(PEX16):c.156T>C (p.Ser52=)
NM_004813.4(PEX16):c.171T>G (p.Leu57=) rs2134697056
NM_004813.4(PEX16):c.175C>T (p.Leu59=) rs2134697038
NM_004813.4(PEX16):c.177G>C (p.Leu59=)
NM_004813.4(PEX16):c.189G>A (p.Gly63=) rs756337787
NM_004813.4(PEX16):c.189G>C (p.Gly63=) rs756337787
NM_004813.4(PEX16):c.18C>T (p.Leu6=) rs921940265
NM_004813.4(PEX16):c.192C>T (p.Ile64=)
NM_004813.4(PEX16):c.193C>T (p.Leu65=)
NM_004813.4(PEX16):c.19C>T (p.Leu7=)
NM_004813.4(PEX16):c.225+15A>G
NM_004813.4(PEX16):c.225+16A>G
NM_004813.4(PEX16):c.225+18A>G
NM_004813.4(PEX16):c.226-16C>T
NM_004813.4(PEX16):c.226-21_226-19del
NM_004813.4(PEX16):c.226-6T>C
NM_004813.4(PEX16):c.226-8del
NM_004813.4(PEX16):c.228G>A (p.Ser76=)
NM_004813.4(PEX16):c.237G>A (p.Gln79=)
NM_004813.4(PEX16):c.244C>T (p.Leu82=)
NM_004813.4(PEX16):c.258G>C (p.Leu86=)
NM_004813.4(PEX16):c.261C>T (p.Ser87=) rs780266965
NM_004813.4(PEX16):c.276G>C (p.Val92=)
NM_004813.4(PEX16):c.303C>A (p.Ala101=) rs80275010
NM_004813.4(PEX16):c.306G>A (p.Lys102=)
NM_004813.4(PEX16):c.324C>T (p.Gly108=) rs2134695939
NM_004813.4(PEX16):c.339C>A (p.Ile113=) rs947543439
NM_004813.4(PEX16):c.339C>T (p.Ile113=)
NM_004813.4(PEX16):c.345_346delinsTA (p.Val116Ile) rs2134695847
NM_004813.4(PEX16):c.348C>T (p.Val116=) rs886048328
NM_004813.4(PEX16):c.357C>T (p.Ala119=) rs2134695800
NM_004813.4(PEX16):c.359+14G>T
NM_004813.4(PEX16):c.359+15T>C
NM_004813.4(PEX16):c.359+16G>A
NM_004813.4(PEX16):c.359+7dup
NM_004813.4(PEX16):c.360-11C>A rs778867878
NM_004813.4(PEX16):c.360-11C>T
NM_004813.4(PEX16):c.360-13C>T rs373733086
NM_004813.4(PEX16):c.360-15T>C
NM_004813.4(PEX16):c.360-16A>C
NM_004813.4(PEX16):c.360-17C>T
NM_004813.4(PEX16):c.360-6A>T
NM_004813.4(PEX16):c.369G>A (p.Leu123=)
NM_004813.4(PEX16):c.370C>A (p.Arg124=)
NM_004813.4(PEX16):c.379C>T (p.Leu127=)
NM_004813.4(PEX16):c.387C>G (p.Leu129=)
NM_004813.4(PEX16):c.430C>T (p.Leu144=)
NM_004813.4(PEX16):c.438A>G (p.Arg146=)
NM_004813.4(PEX16):c.460+16A>C
NM_004813.4(PEX16):c.460+17A>G rs1292913105
NM_004813.4(PEX16):c.460+19C>T
NM_004813.4(PEX16):c.460+9C>T
NM_004813.4(PEX16):c.461-11A>G rs1297070831
NM_004813.4(PEX16):c.461-12_461-9del
NM_004813.4(PEX16):c.461-15G>A
NM_004813.4(PEX16):c.461-15G>T
NM_004813.4(PEX16):c.461-16T>C
NM_004813.4(PEX16):c.461-17C>A
NM_004813.4(PEX16):c.461-9C>G
NM_004813.4(PEX16):c.461-9C>T rs753312075
NM_004813.4(PEX16):c.462T>C (p.Asp154=)
NM_004813.4(PEX16):c.468C>T (p.Asp156=)
NM_004813.4(PEX16):c.471C>T (p.His157=) rs2134693951
NM_004813.4(PEX16):c.489G>A (p.Glu163=)
NM_004813.4(PEX16):c.492G>A (p.Gln164=)
NM_004813.4(PEX16):c.525G>A (p.Val175=) rs936507537
NM_004813.4(PEX16):c.534C>G (p.Leu178=) rs2134693776
NM_004813.4(PEX16):c.541+10G>T rs1377019967
NM_004813.4(PEX16):c.541+12A>T
NM_004813.4(PEX16):c.541+14G>A
NM_004813.4(PEX16):c.541+15T>A rs2134693722
NM_004813.4(PEX16):c.541+15T>C
NM_004813.4(PEX16):c.541+20G>A
NM_004813.4(PEX16):c.541+8G>A rs1565081217
NM_004813.4(PEX16):c.542-12C>A
NM_004813.4(PEX16):c.542-12C>G
NM_004813.4(PEX16):c.542-15G>A
NM_004813.4(PEX16):c.542-20C>T
NM_004813.4(PEX16):c.549C>A (p.Ser183=)
NM_004813.4(PEX16):c.549C>T (p.Ser183=)
NM_004813.4(PEX16):c.54C>T (p.His18=)
NM_004813.4(PEX16):c.564C>T (p.His188=)
NM_004813.4(PEX16):c.57G>A (p.Pro19=)
NM_004813.4(PEX16):c.585G>A (p.Arg195=)
NM_004813.4(PEX16):c.594G>A (p.Arg198=)
NM_004813.4(PEX16):c.600G>A (p.Gln200=) rs769604713
NM_004813.4(PEX16):c.603G>A (p.Gln201=)
NM_004813.4(PEX16):c.618G>A (p.Leu206=)
NM_004813.4(PEX16):c.627C>T (p.Thr209=)
NM_004813.4(PEX16):c.630C>T (p.Pro210=)
NM_004813.4(PEX16):c.633C>A (p.Thr211=)
NM_004813.4(PEX16):c.633C>G (p.Thr211=)
NM_004813.4(PEX16):c.636C>A (p.Pro212=)
NM_004813.4(PEX16):c.636C>G (p.Pro212=)
NM_004813.4(PEX16):c.643C>T (p.Leu215=)
NM_004813.4(PEX16):c.654C>T (p.Thr218=)
NM_004813.4(PEX16):c.666T>C (p.Phe222=)
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.675T>C (p.Ile225=)
NM_004813.4(PEX16):c.681G>A (p.Arg227=)
NM_004813.4(PEX16):c.684G>C (p.Pro228=)
NM_004813.4(PEX16):c.684G>T (p.Pro228=)
NM_004813.4(PEX16):c.685C>T (p.Leu229=)
NM_004813.4(PEX16):c.688C>T (p.Leu230=) rs2134692881
NM_004813.4(PEX16):c.694+13C>T rs763001456
NM_004813.4(PEX16):c.694+17del rs775951837
NM_004813.4(PEX16):c.694+20G>A rs2134692802
NM_004813.4(PEX16):c.694+7T>A rs2134692830
NM_004813.4(PEX16):c.695-13C>A
NM_004813.4(PEX16):c.695-14G>A
NM_004813.4(PEX16):c.695-18dup
NM_004813.4(PEX16):c.695-4T>C
NM_004813.4(PEX16):c.695-7C>T
NM_004813.4(PEX16):c.699C>G (p.Leu233=)
NM_004813.4(PEX16):c.703C>T (p.Leu235=)
NM_004813.4(PEX16):c.705G>C (p.Leu235=)
NM_004813.4(PEX16):c.726G>T (p.Ser242=) rs200414298
NM_004813.4(PEX16):c.732A>G (p.Lys244=)
NM_004813.4(PEX16):c.735C>G (p.Pro245=)
NM_004813.4(PEX16):c.742T>C (p.Leu248=)
NM_004813.4(PEX16):c.767+14T>C
NM_004813.4(PEX16):c.767+15G>C rs770254589
NM_004813.4(PEX16):c.767+15G>T
NM_004813.4(PEX16):c.767+16C>T
NM_004813.4(PEX16):c.767+20G>A
NM_004813.4(PEX16):c.767+20G>T
NM_004813.4(PEX16):c.767+7_767+10dup
NM_004813.4(PEX16):c.767+8T>C
NM_004813.4(PEX16):c.768-14T>A
NM_004813.4(PEX16):c.768-15C>T rs1198116131
NM_004813.4(PEX16):c.768-18G>A rs374677338
NM_004813.4(PEX16):c.768-18G>T rs374677338
NM_004813.4(PEX16):c.768-20_768-18del
NM_004813.4(PEX16):c.768-8C>A
NM_004813.4(PEX16):c.771G>A (p.Leu257=)
NM_004813.4(PEX16):c.774C>T (p.Ser258=) rs1031968916
NM_004813.4(PEX16):c.778C>T (p.Leu260=)
NM_004813.4(PEX16):c.786C>T (p.Asp262=)
NM_004813.4(PEX16):c.792G>A (p.Lys264=)
NM_004813.4(PEX16):c.796C>T (p.Leu266=) rs2134691972
NM_004813.4(PEX16):c.798G>A (p.Leu266=)
NM_004813.4(PEX16):c.801C>G (p.Thr267=)
NM_004813.4(PEX16):c.807G>A (p.Arg269=)
NM_004813.4(PEX16):c.810G>A (p.Glu270=)
NM_004813.4(PEX16):c.825G>A (p.Arg275=)
NM_004813.4(PEX16):c.825G>C (p.Arg275=) rs965837945
NM_004813.4(PEX16):c.825G>T (p.Arg275=)
NM_004813.4(PEX16):c.828C>T (p.Arg276=)
NM_004813.4(PEX16):c.834C>T (p.Thr278=)
NM_004813.4(PEX16):c.855G>C (p.Leu285=)
NM_004813.4(PEX16):c.887+10C>T
NM_004813.4(PEX16):c.887+14A>G
NM_004813.4(PEX16):c.887+8C>T
NM_004813.4(PEX16):c.888-10C>T
NM_004813.4(PEX16):c.888-11G>C
NM_004813.4(PEX16):c.888-12T>G rs1565079258
NM_004813.4(PEX16):c.888-14A>G
NM_004813.4(PEX16):c.888-17T>C
NM_004813.4(PEX16):c.888-9C>A
NM_004813.4(PEX16):c.891C>G (p.Ala297=)
NM_004813.4(PEX16):c.891C>T (p.Ala297=) rs2086772585
NM_004813.4(PEX16):c.897C>T (p.Ile299=)
NM_004813.4(PEX16):c.900C>T (p.Leu300=)
NM_004813.4(PEX16):c.903C>T (p.Phe301=)
NM_004813.4(PEX16):c.906G>C (p.Leu302=) rs2086772343
NM_004813.4(PEX16):c.913T>C (p.Leu305=)
NM_004813.4(PEX16):c.918G>A (p.Leu306=)
NM_004813.4(PEX16):c.921C>G (p.Ala307=)
NM_004813.4(PEX16):c.927C>T (p.His309=)
NM_004813.4(PEX16):c.933T>A (p.Pro311=)
NM_004813.4(PEX16):c.933T>G (p.Pro311=)
NM_004813.4(PEX16):c.936C>G (p.Gly312=)
NM_004813.4(PEX16):c.936C>T (p.Gly312=)
NM_004813.4(PEX16):c.93C>T (p.Gly31=)
NM_004813.4(PEX16):c.942C>A (p.Gly314=)
NM_004813.4(PEX16):c.942C>T (p.Gly314=)
NM_004813.4(PEX16):c.945G>A (p.Leu315=) rs2086770676
NM_004813.4(PEX16):c.945G>C (p.Leu315=)
NM_004813.4(PEX16):c.948C>T (p.Val316=)
NM_004813.4(PEX16):c.952+10G>A rs989867106
NM_004813.4(PEX16):c.952+12T>C
NM_004813.4(PEX16):c.952+19G>C
NM_004813.4(PEX16):c.952+19G>T
NM_004813.4(PEX16):c.952+20C>G
NM_004813.4(PEX16):c.952+9G>A
NM_004813.4(PEX16):c.953-12C>G
NM_004813.4(PEX16):c.953-12C>T
NM_004813.4(PEX16):c.953-15C>T
NM_004813.4(PEX16):c.953-20G>A
NM_004813.4(PEX16):c.953-4G>T
NM_004813.4(PEX16):c.953-8C>T
NM_004813.4(PEX16):c.953-9C>T
NM_004813.4(PEX16):c.966T>C (p.Asp322=)
NM_004813.4(PEX16):c.972G>A (p.Leu324=)
NM_004813.4(PEX16):c.975C>T (p.Pro325=) rs2134685494
NM_004813.4(PEX16):c.978C>G (p.Thr326=)

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