ClinVar Miner

List of variants in gene PEX6 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 248
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1368-177G>A rs3805953 0.60522
NC_000006.12:g.42979275G>C rs9462860 0.57998
NM_000287.4(PEX6):c.1885-222A>G rs4714644 0.57658
NM_000287.4(PEX6):c.1046+162C>T rs9296407 0.57560
NM_000287.4(PEX6):c.2667-48G>A rs2274517 0.57547
NM_000287.4(PEX6):c.1688+30C>T rs9471982 0.56968
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.1367+230G>T rs3805951 0.40569
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000287.4(PEX6):c.883-230C>T rs2274518 0.11554
NM_000287.4(PEX6):c.1479+110C>T rs73432562 0.07370
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NC_000006.12:g.42979453A>G rs41274896 0.06047
NM_000287.4(PEX6):c.1885-109C>A rs4714643 0.04956
NM_000287.4(PEX6):c.882+86G>C rs76043831 0.04397
NM_000287.4(PEX6):c.1130+108T>C rs112436350 0.03524
NM_000287.4(PEX6):c.1046+257G>A rs9369397 0.03257
NM_000287.4(PEX6):c.1130+106C>T rs57130470 0.02696
NM_000287.4(PEX6):c.1688+106del rs111981353 0.02605
NM_000287.4(PEX6):c.1884+110C>T rs112796168 0.02541
NM_000287.4(PEX6):c.*212C>T rs1051218 0.02308
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_000287.4(PEX6):c.1688+88C>T rs151180031 0.01807
NM_000287.4(PEX6):c.1689-60G>A rs117798645 0.01807
NM_000287.4(PEX6):c.2667-64G>A rs41274888 0.01776
NM_000287.4(PEX6):c.1130+95C>T rs16896189 0.01301
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_000287.4(PEX6):c.1688+33G>A rs140074013 0.01262
NM_000287.4(PEX6):c.2806+78G>A rs7775607 0.01258
NM_000287.4(PEX6):c.1885-177G>A rs192284391 0.00742
NM_000287.4(PEX6):c.1689-275A>G rs188806289 0.00736
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.1046+28T>C rs115079699 0.00667
NC_000006.12:g.42979411G>A rs41274894 0.00642
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.882+15_882+16del rs555409430 0.00189
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927 0.00176
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979 0.00175
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000287.4(PEX6):c.1014C>T (p.Asp338=) rs140806942 0.00039
NM_000287.4(PEX6):c.1335C>G (p.Leu445=) rs142958800 0.00039
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_000287.4(PEX6):c.-2C>G rs376675730 0.00036
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083 0.00026
NM_000287.4(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr) rs115186444 0.00020
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00018
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val) rs200115671 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00011
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile) rs865933425 0.00010
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00010
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000287.4(PEX6):c.219G>A (p.Gln73=) rs191944205 0.00007
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808 0.00006
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868 0.00005
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu) rs558030547 0.00005
NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp) rs762858933 0.00005
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.1206C>T (p.Ala402=) rs756358409 0.00004
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys) rs762734034 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00004
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln) rs374426032 0.00004
NM_000287.4(PEX6):c.807A>G (p.Gly269=) rs774117516 0.00004
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1455T>C (p.Ser485=) rs749798782 0.00003
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp) rs754790139 0.00003
NM_000287.4(PEX6):c.185C>T (p.Ala62Val) rs991131935 0.00003
NM_000287.4(PEX6):c.2493C>T (p.Ala831=) rs775778545 0.00003
NM_000287.4(PEX6):c.412G>A (p.Val138Met) rs763313055 0.00003
NM_000287.4(PEX6):c.465G>C (p.Leu155=) rs1187015124 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.1047-4G>T rs748779475 0.00002
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.2746T>C (p.Ser916Pro) rs370031396 0.00002
NM_000287.4(PEX6):c.367C>T (p.Leu123=) rs758218388 0.00002
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro) rs778025463 0.00001
NM_000287.4(PEX6):c.1362G>A (p.Gln454=) rs1360001006 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg) rs762174122 0.00001
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn) rs770340288 0.00001
NM_000287.4(PEX6):c.1531C>T (p.Leu511=) rs147567606 0.00001
NM_000287.4(PEX6):c.1688+3A>G rs111397663 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1815G>A (p.Leu605=) rs746010714 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2094+6G>A rs1009420665 0.00001
NM_000287.4(PEX6):c.2148G>A (p.Glu716=) rs766104579 0.00001
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser) rs577794661 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val) rs183208634 0.00001
NM_000287.4(PEX6):c.2667-4A>G rs1561819184 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2875C>T (p.Gln959Ter) rs1437291000 0.00001
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala) rs1361796630 0.00001
NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys) rs575358435 0.00001
NM_000287.4(PEX6):c.332C>T (p.Ser111Leu) rs1561831118 0.00001
NM_000287.4(PEX6):c.348C>T (p.Leu116=) rs746578841 0.00001
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422 0.00001
NM_000287.4(PEX6):c.496C>G (p.Leu166Val) rs1770417803 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn) rs1259137255 0.00001
NM_000287.4(PEX6):c.759T>C (p.Asp253=) rs374342179 0.00001
NM_000287.4(PEX6):c.762A>G (p.Arg254=) rs777826616 0.00001
NC_000006.12:g.42979305G>T rs41274890
NM_000287.4(PEX6):c.*181dup
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1046+250del rs371097037
NM_000287.4(PEX6):c.1047-76G>A
NM_000287.4(PEX6):c.1071_1072del (p.Val359fs)
NM_000287.4(PEX6):c.1090C>T (p.Gln364Ter) rs1770166292
NM_000287.4(PEX6):c.1131-106G>A
NM_000287.4(PEX6):c.1137G>A (p.Arg379=) rs766574538
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.123G>A (p.Arg41=) rs1561831496
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1367+280G>A rs3805952
NM_000287.4(PEX6):c.1368G>A (p.Gly456=) rs763725671
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr) rs1320010518
NM_000287.4(PEX6):c.1479+7G>A rs528161793
NM_000287.4(PEX6):c.1480-123C>G rs113866814
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro) rs371782808
NM_000287.4(PEX6):c.1564C>T (p.Arg522Trp)
NM_000287.4(PEX6):c.161T>G (p.Val54Gly) rs2150240668
NM_000287.4(PEX6):c.1689-3C>T rs769573987
NM_000287.4(PEX6):c.1723C>T (p.Arg575Trp) rs755211783
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro) rs1561821635
NM_000287.4(PEX6):c.1885-111_1885-110del rs144477517
NM_000287.4(PEX6):c.1885-192C>T
NM_000287.4(PEX6):c.1928G>T (p.Ser643Ile) rs1554127125
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1979C>T (p.Thr660Ile) rs1561820916
NM_000287.4(PEX6):c.1992G>T (p.Glu664Asp)
NM_000287.4(PEX6):c.2008G>T (p.Ala670Ser) rs1268182518
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2025_2035del (p.Ala676fs) rs2114240428
NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)
NM_000287.4(PEX6):c.2048T>C (p.Leu683Pro)
NM_000287.4(PEX6):c.2094+26G>T
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2132A>G (p.Gln711Arg) rs2114240042
NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg) rs1485203588
NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro) rs1581760232
NM_000287.4(PEX6):c.2236C>T (p.Pro746Ser)
NM_000287.4(PEX6):c.2282G>A (p.Cys761Tyr) rs1366185915
NM_000287.4(PEX6):c.2301-5_2301-2del rs748032659
NM_000287.4(PEX6):c.2314G>T (p.Glu772Ter)
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp) rs929525105
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2384C>T (p.Ala795Val)
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2406del (p.Phe802fs) rs1554126965
NM_000287.4(PEX6):c.240G>A (p.Leu80=) rs1554128547
NM_000287.4(PEX6):c.2456GAG[1] (p.Gly820del) rs1561819834
NM_000287.4(PEX6):c.2544del (p.Asn849fs) rs2114237595
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2596A>C (p.Lys866Gln) rs1561819432
NM_000287.4(PEX6):c.2619T>C (p.Asn873=) rs886043369
NM_000287.4(PEX6):c.2642G>C (p.Arg881Pro) rs751377690
NM_000287.4(PEX6):c.2667-10C>A rs1554126803
NM_000287.4(PEX6):c.2667-1G>T
NM_000287.4(PEX6):c.2702del (p.Val901fs) rs1769688206
NM_000287.4(PEX6):c.2717C>T (p.Pro906Leu) rs1561819096
NM_000287.4(PEX6):c.2741T>C (p.Leu914Pro) rs1561819049
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.4(PEX6):c.303G>A (p.Pro101=) rs1032414476
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.336G>T (p.Leu112=) rs1194598013
NM_000287.4(PEX6):c.363G>A (p.Gly121=) rs1282410534
NM_000287.4(PEX6):c.382G>A (p.Gly128Arg) rs1554128505
NM_000287.4(PEX6):c.444G>C (p.Leu148=) rs1022934488
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln) rs1561830810
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr) rs748585216
NM_000287.4(PEX6):c.531A>C (p.Pro177=) rs2150239865
NM_000287.4(PEX6):c.574C>G (p.Arg192Gly) rs1403841138
NM_000287.4(PEX6):c.612A>G (p.Ser204=) rs886043877
NM_000287.4(PEX6):c.647G>T (p.Gly216Val)
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.661G>T (p.Glu221Ter) rs786205580
NM_000287.4(PEX6):c.684dup (p.Arg229fs) rs886043908
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp) rs374452739
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala) rs983060034
NM_000287.4(PEX6):c.831G>A (p.Leu277=)
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.882+129G>A rs111762254
NM_000287.4(PEX6):c.883-28del rs3831135
NM_000287.4(PEX6):c.896G>C (p.Gly299Ala) rs548459114
NM_000287.4(PEX6):c.988C>T (p.His330Tyr) rs1561827871

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.