ClinVar Miner

List of variants in gene PEX16 reported as uncertain significance for Peroxisome biogenesis disorder

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Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00025
NM_004813.4(PEX16):c.832A>G (p.Thr278Ala) rs765797303 0.00021
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp) rs560024236 0.00019
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp) rs767624302 0.00015
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_004813.4(PEX16):c.499G>A (p.Val167Met) rs147332976 0.00010
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.583C>T (p.Arg195Trp) rs557365860 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.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.421A>G (p.Ile141Val) rs761426585 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.112+5C>A rs1341271925 0.00002
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.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.623C>T (p.Ala208Val) rs201173264 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.119T>A (p.Phe40Tyr) rs2086849601 0.00001
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg) rs754220780 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.216G>C (p.Lys72Asn) rs886957873 0.00001
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu) rs775069669 0.00001
NM_004813.4(PEX16):c.225+3G>A rs1472778505 0.00001
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) rs139930879 0.00001
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe) rs1369455274 0.00001
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser) rs2086854956 0.00001
NM_004813.4(PEX16):c.319G>A (p.Val107Met) rs17856002 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.424G>A (p.Val142Ile) rs764718228 0.00001
NM_004813.4(PEX16):c.448G>T (p.Ala150Ser) rs772360222 0.00001
NM_004813.4(PEX16):c.459G>A (p.Pro153=) rs377135763 0.00001
NM_004813.4(PEX16):c.461-6del rs1344841850 0.00001
NM_004813.4(PEX16):c.485A>G (p.His162Arg) rs771211079 0.00001
NM_004813.4(PEX16):c.492G>C (p.Gln164His) rs773347735 0.00001
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln) rs771831186 0.00001
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu) rs755516862 0.00001
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser) rs1424342604 0.00001
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys) rs368553807 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.637C>G (p.Leu213Val) rs2086810277 0.00001
NM_004813.4(PEX16):c.673A>G (p.Ile225Val) rs779235562 0.00001
NM_004813.4(PEX16):c.686T>C (p.Leu229Pro) rs756167148 0.00001
NM_004813.4(PEX16):c.707G>T (p.Gly236Val) rs2134692571 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 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.783T>A (p.Ser261Arg) rs1473757281 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.815G>A (p.Arg272Gln) rs780754678 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.824G>A (p.Arg275Gln) rs1383363053 0.00001
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp) rs1381800210 0.00001
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala) rs780955218 0.00001
NM_004813.4(PEX16):c.878G>A (p.Arg293His) rs780466184 0.00001
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly) rs2134691628 0.00001
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly) rs887278864 0.00001
NM_004813.4(PEX16):c.928G>A (p.Val310Ile) rs771392114 0.00001
NM_004813.4(PEX16):c.952+6C>T rs560563187 0.00001
NM_004813.4(PEX16):c.962T>C (p.Met321Thr) rs758636115 0.00001
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr) rs1451639995 0.00001
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn) rs2086762416
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr) rs2086762416
NM_004813.4(PEX16):c.103C>G (p.Leu35Val) rs1427588700
NM_004813.4(PEX16):c.112+5C>T rs1341271925
NM_004813.4(PEX16):c.134A>T (p.Glu45Val) rs2134699091
NM_004813.4(PEX16):c.149-3C>T rs2494908948
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.230T>C (p.Leu77Pro) rs2086828379
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) rs557467152
NM_004813.4(PEX16):c.334G>A (p.Val112Ile) rs2494904835
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 rs376700606
NM_004813.4(PEX16):c.360-9C>A rs1316866259
NM_004813.4(PEX16):c.389G>C (p.Trp130Ser) rs2494903421
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) rs764641368
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu) rs761426585
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys) rs2494902986
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser) rs2494902951
NM_004813.4(PEX16):c.460+3G>A rs2494902798
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.461-6T>A rs2494899007
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) rs2494898885
NM_004813.4(PEX16):c.469C>A (p.His157Asn) rs2134693966
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly) rs2494898658
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro) rs768523500
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr) rs2086814861
NM_004813.4(PEX16):c.554A>G (p.His185Arg) rs751814237
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln) rs959280173
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu) rs959280173
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.635C>T (p.Pro212Leu) rs201846257
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) rs1175669602
NM_004813.4(PEX16):c.659C>T (p.Ala220Val) rs2134692997
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) rs2086807775
NM_004813.4(PEX16):c.703C>G (p.Leu235Val) rs765315257
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp) rs2494894732
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) rs769033920
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) rs1406601120
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro) rs2134691868
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.86T>G (p.Val29Gly) rs2134699660
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr) rs2494892118
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn)
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) rs544053792
NM_004813.4(PEX16):c.888-3C>A rs201479358
NM_004813.4(PEX16):c.912G>C (p.Gln304His) rs1431975952
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr) rs2086772065
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) rs2494878675
NM_004813.4(PEX16):c.935G>T (p.Gly312Val) rs2494878497
NM_004813.4(PEX16):c.941G>C (p.Gly314Ala)
NM_004813.4(PEX16):c.952+3A>C rs2134686616
NM_004813.4(PEX16):c.953-5T>A rs2494875591
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) rs886850783
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del) rs780128071
NM_004813.4(PEX16):c.997T>C (p.Tyr333His) rs2494875361

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