ClinVar Miner

List of variants in gene PEX16 studied for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 551
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_057174.2(PEX16):c.*434G>A rs2280329 0.60761
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
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.303C>T (p.Ala101=) rs80275010 0.02501
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_004813.4(PEX16):c.952+18C>T rs112068553 0.00535
NM_004813.4(PEX16):c.943C>T (p.Leu315=) rs150774189 0.00426
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.*175C>A rs375099703 0.00055
NM_004813.2(PEX16):c.-184A>G rs745333570 0.00051
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.*107C>T rs201513691 0.00034
NM_004813.2(PEX16):c.-164G>T rs773746164 0.00028
NM_004813.4(PEX16):c.*70C>G rs530762140 0.00027
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
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.832A>G (p.Thr278Ala) rs765797303 0.00019
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp) rs560024236 0.00018
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp) rs767624302 0.00017
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.877C>T (p.Arg293Cys) rs544053792 0.00013
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.*557G>C rs770223341 0.00010
NM_004813.4(PEX16):c.499G>A (p.Val167Met) rs147332976 0.00010
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu) rs779813719 0.00009
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 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.*341C>T rs559300237 0.00006
NM_004813.4(PEX16):c.*53C>G rs369974509 0.00006
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.1006G>C (p.Gly336Arg) rs767383372 0.00005
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.209G>A (p.Arg70Gln) rs776600798 0.00004
NM_004813.4(PEX16):c.252A>G (p.Thr84=) rs367893667 0.00004
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr) rs374045163 0.00004
NM_004813.4(PEX16):c.421A>G (p.Ile141Val) rs761426585 0.00004
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser) rs774416603 0.00004
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp) rs759501669 0.00004
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 0.00004
NM_004813.4(PEX16):c.768C>T (p.Ser256=) rs1173649955 0.00004
NM_004813.4(PEX16):c.*309G>C rs886048325 0.00003
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.208C>T (p.Arg70Trp) rs886044340 0.00003
NM_004813.4(PEX16):c.273C>T (p.Cys91=) rs146476007 0.00003
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg) rs761839307 0.00003
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln) rs1319561377 0.00003
NM_004813.4(PEX16):c.643C>G (p.Leu215Val) rs773150003 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.844C>T (p.Leu282Phe) rs199767958 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.13C>T (p.Arg5Trp) rs768102300 0.00002
NM_004813.4(PEX16):c.147G>A (p.Leu49=) rs944696367 0.00002
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.274G>A (p.Val92Met) rs764174581 0.00002
NM_004813.4(PEX16):c.27C>T (p.Leu9=) rs913040375 0.00002
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg) rs764641368 0.00002
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly) rs1394054374 0.00002
NM_004813.4(PEX16):c.546G>A (p.Pro182=) rs1026595479 0.00002
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp) rs774218187 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.694+11C>T rs763840804 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.803G>A (p.Arg268Gln) rs376763841 0.00002
NM_004813.4(PEX16):c.811C>T (p.Arg271Trp) rs777810731 0.00002
NM_004813.4(PEX16):c.885C>T (p.Ser295=) rs200415017 0.00002
NM_004813.4(PEX16):c.937G>A (p.Val313Ile) rs747521980 0.00002
NM_004813.4(PEX16):c.957G>A (p.Pro319=) rs751904831 0.00002
NM_004813.4(PEX16):c.*277C>T rs886048326 0.00001
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.162T>C (p.Ser54=) rs552583175 0.00001
NM_004813.4(PEX16):c.165C>T (p.Asn55=) rs746381331 0.00001
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg) rs754220780 0.00001
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln) rs143737124 0.00001
NM_004813.4(PEX16):c.202G>A (p.Glu68Lys) rs374895823 0.00001
NM_004813.4(PEX16):c.226-12G>A rs770166678 0.00001
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) rs139930879 0.00001
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser) rs2086854956 0.00001
NM_004813.4(PEX16):c.325C>T (p.Arg109Cys) rs779016766 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.370C>T (p.Arg124Trp) rs754748410 0.00001
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln) rs751381531 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.448G>T (p.Ala150Ser) rs772360222 0.00001
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter) rs1218545995 0.00001
NM_004813.4(PEX16):c.460+20C>A rs749438800 0.00001
NM_004813.4(PEX16):c.461-6del rs1344841850 0.00001
NM_004813.4(PEX16):c.492G>C (p.Gln164His) rs773347735 0.00001
NM_004813.4(PEX16):c.498C>T (p.Tyr166=) rs918637787 0.00001
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) rs61752117 0.00001
NM_004813.4(PEX16):c.542-4C>G rs755666423 0.00001
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu) rs755516862 0.00001
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp) rs557365860 0.00001
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys) rs368553807 0.00001
NM_004813.4(PEX16):c.612G>A (p.Glu204=) rs758739455 0.00001
NM_004813.4(PEX16):c.623C>T (p.Ala208Val) rs201173264 0.00001
NM_004813.4(PEX16):c.624G>A (p.Ala208=) rs1198584811 0.00001
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu) rs565706311 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.679C>T (p.Arg227Trp) rs1064794320 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004813.4(PEX16):c.684G>A (p.Pro228=) rs777904359 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 0.00001
NM_004813.4(PEX16):c.711G>A (p.Leu237=) rs763743599 0.00001
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) rs2086807349 0.00001
NM_004813.4(PEX16):c.734C>T (p.Pro245Leu) rs1364730132 0.00001
NM_004813.4(PEX16):c.752T>G (p.Val251Gly) rs759092071 0.00001
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp) rs886044625 0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) rs769838583 0.00001
NM_004813.4(PEX16):c.820C>A (p.Leu274Met) rs751273439 0.00001
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp) rs372815115 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004813.4(PEX16):c.888-18A>C rs779536979 0.00001
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly) rs887278864 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.962T>C (p.Met321Thr) rs758636115 0.00001
NM_004813.4(PEX16):c.996C>T (p.Phe332=) rs200546977 0.00001
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.4(PEX16):c.*324G>A rs879320611
NM_004813.4(PEX16):c.*376G>A rs143868125
NM_004813.4(PEX16):c.*376G>C rs143868125
NM_004813.4(PEX16):c.*491G>A rs886048324
NM_004813.4(PEX16):c.-63G>C rs532003586
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn)
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr)
NM_004813.4(PEX16):c.102C>T (p.Tyr34=) rs1293863814
NM_004813.4(PEX16):c.103C>G (p.Leu35Val) rs1427588700
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+2T>G rs1590798080
NM_004813.4(PEX16):c.112+5C>A
NM_004813.4(PEX16):c.112+5C>T
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.115C>T (p.Arg39Ter) rs2134699162
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr)
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.134A>T (p.Glu45Val) rs2134699091
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.149-2A>G
NM_004813.4(PEX16):c.149-3C>T
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.165C>G (p.Asn55Lys) rs746381331
NM_004813.4(PEX16):c.169C>T (p.Leu57Phe) rs1224855761
NM_004813.4(PEX16):c.16C>T (p.Leu6Phe) rs2086855399
NM_004813.4(PEX16):c.170T>C (p.Leu57Pro) rs2086834282
NM_004813.4(PEX16):c.171T>G (p.Leu57=) rs2134697056
NM_004813.4(PEX16):c.172G>A (p.Val58Met) rs1287709761
NM_004813.4(PEX16):c.175C>T (p.Leu59=) rs2134697038
NM_004813.4(PEX16):c.177G>C (p.Leu59=)
NM_004813.4(PEX16):c.178C>G (p.Leu60Val) rs2086834164
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.206T>G (p.Leu69Arg) rs761652611
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn)
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu)
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.225+3G>A
NM_004813.4(PEX16):c.226-16C>T
NM_004813.4(PEX16):c.226-21_226-19del
NM_004813.4(PEX16):c.226-2A>C
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.230T>C (p.Leu77Pro) rs2086828379
NM_004813.4(PEX16):c.237G>A (p.Gln79=)
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
NM_004813.4(PEX16):c.244C>T (p.Leu82=)
NM_004813.4(PEX16):c.258G>C (p.Leu86=)
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe) rs1369455274
NM_004813.4(PEX16):c.261C>T (p.Ser87=) rs780266965
NM_004813.4(PEX16):c.262G>T (p.Val88Leu) rs567165324
NM_004813.4(PEX16):c.276G>C (p.Val92=)
NM_004813.4(PEX16):c.293T>C (p.Met98Thr) rs755886932
NM_004813.4(PEX16):c.303C>A (p.Ala101=) rs80275010
NM_004813.4(PEX16):c.306G>A (p.Lys102=)
NM_004813.4(PEX16):c.306G>C (p.Lys102Asn) rs2134696027
NM_004813.4(PEX16):c.307G>C (p.Val103Leu) rs11553094
NM_004813.4(PEX16):c.310T>C (p.Trp104Arg)
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.319G>A (p.Val107Met)
NM_004813.4(PEX16):c.324C>T (p.Gly108=) rs2134695939
NM_004813.4(PEX16):c.334G>A (p.Val112Ile)
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.346= (p.Val116=)
NM_004813.4(PEX16):c.348C>T (p.Val116=) rs886048328
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys) rs2086854813
NM_004813.4(PEX16):c.357C>T (p.Ala119=) rs2134695800
NM_004813.4(PEX16):c.359+13del rs775047767
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+1G>A
NM_004813.4(PEX16):c.359+7dup
NM_004813.4(PEX16):c.359A>T (p.Lys120Met) rs1431364536
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.360-18A>G
NM_004813.4(PEX16):c.360-6A>T
NM_004813.4(PEX16):c.360-9C>A rs1316866259
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.389G>C (p.Trp130Ser)
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr) rs749891033
NM_004813.4(PEX16):c.418C>G (p.Pro140Ala) rs749891033
NM_004813.4(PEX16):c.419C>A (p.Pro140His)
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu) rs761426585
NM_004813.4(PEX16):c.424G>A (p.Val142Ile)
NM_004813.4(PEX16):c.430C>T (p.Leu144=)
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys)
NM_004813.4(PEX16):c.438A>G (p.Arg146=)
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser)
NM_004813.4(PEX16):c.446dup (p.Ala150fs) rs2134695309
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) rs1357832796
NM_004813.4(PEX16):c.459G>A (p.Pro153=) rs377135763
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+3G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
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.461-6T>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.463G>A (p.Gly155Ser) rs2134693988
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp)
NM_004813.4(PEX16):c.468C>T (p.Asp156=)
NM_004813.4(PEX16):c.469C>A (p.His157Asn) rs2134693966
NM_004813.4(PEX16):c.471C>T (p.His157=) rs2134693951
NM_004813.4(PEX16):c.485A>G (p.His162Arg)
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly)
NM_004813.4(PEX16):c.489G>A (p.Glu163=)
NM_004813.4(PEX16):c.492G>A (p.Gln164=)
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro)
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr) rs2086814861
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
NM_004813.4(PEX16):c.525G>A (p.Val175=) rs936507537
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln)
NM_004813.4(PEX16):c.534C>G (p.Leu178=) rs2134693776
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327
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.554A>G (p.His185Arg) rs751814237
NM_004813.4(PEX16):c.564C>T (p.His188=)
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser)
NM_004813.4(PEX16):c.57G>A (p.Pro19=)
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln)
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu)
NM_004813.4(PEX16):c.585G>A (p.Arg195=)
NM_004813.4(PEX16):c.58del (p.Ala20fs)
NM_004813.4(PEX16):c.594G>A (p.Arg198=)
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys) rs770726448
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg) rs772953974
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.628C>T (p.Pro210Ser) rs754114296
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.635C>T (p.Pro212Leu)
NM_004813.4(PEX16):c.636C>A (p.Pro212=)
NM_004813.4(PEX16):c.636C>G (p.Pro212=)
NM_004813.4(PEX16):c.637C>G (p.Leu213Val)
NM_004813.4(PEX16):c.643C>T (p.Leu215=)
NM_004813.4(PEX16):c.649_651del (p.Glu217del) rs1403262719
NM_004813.4(PEX16):c.651G>T (p.Glu217Asp) rs761544516
NM_004813.4(PEX16):c.653C>A (p.Thr218Asn)
NM_004813.4(PEX16):c.654C>T (p.Thr218=)
NM_004813.4(PEX16):c.659C>T (p.Ala220Val) rs2134692997
NM_004813.4(PEX16):c.65_71del (p.Thr22fs) rs2134699707
NM_004813.4(PEX16):c.666T>C (p.Phe222=)
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.673A>G (p.Ile225Val)
NM_004813.4(PEX16):c.675T>C (p.Ile225=)
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
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.686T>C (p.Leu229Pro)
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+1G>A rs2134692847
NM_004813.4(PEX16):c.694+20G>A rs2134692802
NM_004813.4(PEX16):c.694+6C>A rs2134692834
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.700A>G (p.Ser234Gly)
NM_004813.4(PEX16):c.703C>G (p.Leu235Val) rs765315257
NM_004813.4(PEX16):c.703C>T (p.Leu235=)
NM_004813.4(PEX16):c.705G>C (p.Leu235=)
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) rs757071504
NM_004813.4(PEX16):c.707G>T (p.Gly236Val) rs2134692571
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp)
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter) rs2134692559
NM_004813.4(PEX16):c.726G>T (p.Ser242=) rs200414298
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
NM_004813.4(PEX16):c.732A>G (p.Lys244=)
NM_004813.4(PEX16):c.735C>G (p.Pro245=)
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter) rs2086807269
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro) rs2086807248
NM_004813.4(PEX16):c.742T>C (p.Leu248=)
NM_004813.4(PEX16):c.760G>A (p.Val254Met) rs35214605
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>A (p.Leu260Met)
NM_004813.4(PEX16):c.778C>T (p.Leu260=)
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg)
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn) rs2134692005
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.805A>G (p.Arg269Gly) rs1202074085
NM_004813.4(PEX16):c.805_813dup (p.268RRE[3]) rs746516702
NM_004813.4(PEX16):c.807G>A (p.Arg269=)
NM_004813.4(PEX16):c.810G>A (p.Glu270=)
NM_004813.4(PEX16):c.810G>T (p.Glu270Asp)
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln) rs780754678
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro) rs2134691868
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln) rs1383363053
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.826C>T (p.Arg276Cys) rs762568886
NM_004813.4(PEX16):c.827G>A (p.Arg276His) rs1420647698
NM_004813.4(PEX16):c.828C>T (p.Arg276=)
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)
NM_004813.4(PEX16):c.834C>T (p.Thr278=)
NM_004813.4(PEX16):c.855G>C (p.Leu285=)
NM_004813.4(PEX16):c.860G>A (p.Arg287His)
NM_004813.4(PEX16):c.861C>T (p.Arg287=) rs747883612
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)
NM_004813.4(PEX16):c.86T>G (p.Val29Gly) rs2134699660
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr)
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn)
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) rs544053792
NM_004813.4(PEX16):c.878G>A (p.Arg293His)
NM_004813.4(PEX16):c.887+10C>T
NM_004813.4(PEX16):c.887+14A>G
NM_004813.4(PEX16):c.887+2T>G rs2134691627
NM_004813.4(PEX16):c.887+8C>T
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly) rs2134691628
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.888-1G>C
NM_004813.4(PEX16):c.888-2A>C rs2086772786
NM_004813.4(PEX16):c.888-3C>A
NM_004813.4(PEX16):c.888-3dup rs2134686844
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.912G>C (p.Gln304His)
NM_004813.4(PEX16):c.913T>C (p.Leu305=)
NM_004813.4(PEX16):c.918G>A (p.Leu306=)
NM_004813.4(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr)
NM_004813.4(PEX16):c.921C>G (p.Ala307=)
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn) rs749785179
NM_004813.4(PEX16):c.922G>C (p.Asp308His) rs749785179
NM_004813.4(PEX16):c.923A>T (p.Asp308Val)
NM_004813.4(PEX16):c.927C>T (p.His309=)
NM_004813.4(PEX16):c.928G>A (p.Val310Ile) rs771392114
NM_004813.4(PEX16):c.933T>A (p.Pro311=)
NM_004813.4(PEX16):c.933T>G (p.Pro311=)
NM_004813.4(PEX16):c.935G>T (p.Gly312Val)
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+118_*82del
NM_004813.4(PEX16):c.952+12T>C
NM_004813.4(PEX16):c.952+15G>T rs778357573
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+20_952+21del rs541010446
NM_004813.4(PEX16):c.952+2T>C rs267608185
NM_004813.4(PEX16):c.952+3A>C rs2134686616
NM_004813.4(PEX16):c.952+3A>G
NM_004813.4(PEX16):c.952+6C>T
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.953-5T>A
NM_004813.4(PEX16):c.953-8C>T
NM_004813.4(PEX16):c.953-9C>T
NM_004813.4(PEX16):c.960_961del (p.Met321fs) rs2134685523
NM_004813.4(PEX16):c.961A>G (p.Met321Val)
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=)
NM_004813.4(PEX16):c.984del (p.Ile330fs) rs1590793006
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr)
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) rs397514472
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)
NM_004813.4(PEX16):c.995_997del (p.Phe332del) rs797045062
NM_004813.4(PEX16):c.997T>C (p.Tyr333His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.