ClinVar Miner

List of variants in gene PEX16 reported as uncertain significance for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
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.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.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.726G>A (p.Ser242=) rs200414298 0.00016
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
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.360-7G>A rs202161790 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.1006G>C (p.Gly336Arg) rs767383372 0.00005
NM_004813.4(PEX16):c.209G>A (p.Arg70Gln) rs776600798 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.578A>G (p.Gln193Arg) rs761839307 0.00003
NM_004813.4(PEX16):c.643C>G (p.Leu215Val) rs773150003 0.00003
NM_004813.4(PEX16):c.844C>T (p.Leu282Phe) rs199767958 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.149-13C>G rs369471815 0.00002
NM_004813.4(PEX16):c.274G>A (p.Val92Met) rs764174581 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.592C>T (p.Arg198Trp) rs774218187 0.00002
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln) rs1319561377 0.00002
NM_004813.4(PEX16):c.609C>T (p.His203=) rs537046144 0.00002
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_004813.4(PEX16):c.699C>T (p.Leu233=) rs781411790 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.937G>A (p.Val313Ile) rs747521980 0.00002
NM_004813.4(PEX16):c.*277C>T rs886048326 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.208C>T (p.Arg70Trp) rs886044340 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.370C>T (p.Arg124Trp) rs754748410 0.00001
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln) rs751381531 0.00001
NM_004813.4(PEX16):c.448G>T (p.Ala150Ser) rs772360222 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.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.623C>T (p.Ala208Val) rs201173264 0.00001
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu) rs565706311 0.00001
NM_004813.4(PEX16):c.632C>T (p.Thr211Ile) rs751488634 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 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.892A>G (p.Arg298Gly) rs887278864 0.00001
NM_004813.4(PEX16):c.962T>C (p.Met321Thr) rs758636115 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.*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.103C>G (p.Leu35Val) rs1427588700
NM_004813.4(PEX16):c.112+5C>A
NM_004813.4(PEX16):c.112+5C>T
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr)
NM_004813.4(PEX16):c.134A>T (p.Glu45Val) rs2134699091
NM_004813.4(PEX16):c.149-3C>T
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.172G>A (p.Val58Met) rs1287709761
NM_004813.4(PEX16):c.178C>G (p.Leu60Val) rs2086834164
NM_004813.4(PEX16):c.206T>G (p.Leu69Arg) rs761652611
NM_004813.4(PEX16):c.215A>G (p.Lys72Arg)
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn)
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu)
NM_004813.4(PEX16):c.225+3G>A
NM_004813.4(PEX16):c.230T>C (p.Leu77Pro) rs2086828379
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe) rs1369455274
NM_004813.4(PEX16):c.262G>T (p.Val88Leu) rs567165324
NM_004813.4(PEX16):c.293T>C (p.Met98Thr) rs755886932
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.319G>A (p.Val107Met)
NM_004813.4(PEX16):c.334G>A (p.Val112Ile)
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.359A>T (p.Lys120Met) rs1431364536
NM_004813.4(PEX16):c.360-18A>G
NM_004813.4(PEX16):c.360-9C>A rs1316866259
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.437G>A (p.Arg146Lys)
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser)
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+3G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.461-6T>A
NM_004813.4(PEX16):c.461-8C>A
NM_004813.4(PEX16):c.463G>A (p.Gly155Ser) rs2134693988
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp)
NM_004813.4(PEX16):c.469C>A (p.His157Asn) rs2134693966
NM_004813.4(PEX16):c.485A>G (p.His162Arg)
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly)
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro)
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr) rs2086814861
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln)
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_004813.4(PEX16):c.554A>G (p.His185Arg) rs751814237
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser)
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln)
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu)
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys) rs770726448
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg) rs772953974
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_004813.4(PEX16):c.635C>T (p.Pro212Leu)
NM_004813.4(PEX16):c.637C>G (p.Leu213Val)
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.659C>T (p.Ala220Val) rs2134692997
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.673A>G (p.Ile225Val)
NM_004813.4(PEX16):c.686T>C (p.Leu229Pro)
NM_004813.4(PEX16):c.694+3A>G
NM_004813.4(PEX16):c.694+6C>A rs2134692834
NM_004813.4(PEX16):c.700A>G (p.Ser234Gly)
NM_004813.4(PEX16):c.703C>G (p.Leu235Val) rs765315257
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>C (p.Trp238Cys)
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp)
NM_004813.4(PEX16):c.725C>T (p.Ser242Leu)
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro) rs2086807248
NM_004813.4(PEX16):c.760G>A (p.Val254Met) rs35214605
NM_004813.4(PEX16):c.778C>A (p.Leu260Met)
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg)
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn) rs2134692005
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.810G>T (p.Glu270Asp)
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln) rs780754678
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.826C>T (p.Arg276Cys) rs762568886
NM_004813.4(PEX16):c.827G>A (p.Arg276His) rs1420647698
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)
NM_004813.4(PEX16):c.830G>T (p.Arg277Leu)
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.887A>G (p.Glu296Gly) rs2134691628
NM_004813.4(PEX16):c.888-3C>A
NM_004813.4(PEX16):c.912G>C (p.Gln304His)
NM_004813.4(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr)
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.928G>A (p.Val310Ile) rs771392114
NM_004813.4(PEX16):c.935G>T (p.Gly312Val)
NM_004813.4(PEX16):c.941G>C (p.Gly314Ala)
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.953-5T>A
NM_004813.4(PEX16):c.956C>T (p.Pro319Leu)
NM_004813.4(PEX16):c.960_961del (p.Met321fs) rs2134685523
NM_004813.4(PEX16):c.961A>G (p.Met321Val)
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr)
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)
NM_004813.4(PEX16):c.997T>C (p.Tyr333His)

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