ClinVar Miner

List of variants in gene PEX6 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr) rs374549180 0.00002
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2806+1G>A rs751900826 0.00001
NM_000287.4(PEX6):c.2875C>T (p.Gln959Ter) rs1437291000 0.00001
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903 0.00001
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1046+1G>T
NM_000287.4(PEX6):c.1046+1del
NM_000287.4(PEX6):c.1094del (p.Val365fs)
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1200C>G (p.Tyr400Ter)
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.1220CCT[1] (p.Ser408del)
NM_000287.4(PEX6):c.1233+2T>C
NM_000287.4(PEX6):c.1234-2A>G rs2114247797
NM_000287.4(PEX6):c.1238del (p.Gly413fs)
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1367+1G>A rs1769988075
NM_000287.4(PEX6):c.1367+1G>T
NM_000287.4(PEX6):c.1367+2T>C
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1369_1370dup
NM_000287.4(PEX6):c.1373_1380del (p.Ala458fs)
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1452T>A (p.Cys484Ter)
NM_000287.4(PEX6):c.1479+1G>A
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1500_1501del (p.Ala501fs)
NM_000287.4(PEX6):c.1522del (p.Glu508fs) rs754684285
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
NM_000287.4(PEX6):c.1689-1G>A rs267608223
NM_000287.4(PEX6):c.1691del (p.Cys564fs) rs2114242920
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) rs375288192
NM_000287.4(PEX6):c.1797del (p.Gln600fs)
NM_000287.4(PEX6):c.1824del (p.Thr609fs)
NM_000287.4(PEX6):c.1881T>A (p.Cys627Ter)
NM_000287.4(PEX6):c.1884+1G>A
NM_000287.4(PEX6):c.1885-1G>A
NM_000287.4(PEX6):c.1933dup (p.Ala645fs)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
NM_000287.4(PEX6):c.196G>T (p.Glu66Ter)
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
NM_000287.4(PEX6):c.2025_2035del (p.Ala676fs) rs2114240428
NM_000287.4(PEX6):c.2041C>T (p.Gln681Ter)
NM_000287.4(PEX6):c.2050G>T (p.Glu684Ter)
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2095-2A>G
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
NM_000287.4(PEX6):c.2227del (p.His743fs)
NM_000287.4(PEX6):c.2237del (p.Pro746fs)
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
NM_000287.4(PEX6):c.2300+2T>C rs1581760028
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
NM_000287.4(PEX6):c.2314G>T (p.Glu772Ter)
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
NM_000287.4(PEX6):c.2361del (p.Val788fs)
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.2406del (p.Phe802fs) rs1554126965
NM_000287.4(PEX6):c.2414_2417dup (p.Ser807fs)
NM_000287.4(PEX6):c.2422_2423del (p.Leu808fs)
NM_000287.4(PEX6):c.2429del (p.Pro810fs)
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln) rs2114238521
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2462del (p.Val821fs)
NM_000287.4(PEX6):c.2471+1G>A
NM_000287.4(PEX6):c.2472-1G>A
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter) rs267608243
NM_000287.4(PEX6):c.2544del (p.Asn849fs) rs2114237595
NM_000287.4(PEX6):c.254del (p.Ala85fs)
NM_000287.4(PEX6):c.2553_2560dup (p.Leu854fs)
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
NM_000287.4(PEX6):c.2589-1G>A
NM_000287.4(PEX6):c.2589-1G>T rs2114237186
NM_000287.4(PEX6):c.2661_2662dup (p.Arg888fs)
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2667-2A>G rs267608249
NM_000287.4(PEX6):c.2684dup (p.Val896fs)
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2702del (p.Val901fs) rs1769688206
NM_000287.4(PEX6):c.2780_2783delinsTGACCAGGT (p.Lys927fs)
NM_000287.4(PEX6):c.292_296dup (p.Pro100fs)
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.386A>T (p.Glu129Val) rs1561831003
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.500_501del (p.Cys167fs)
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.53del (p.Pro18fs)
NM_000287.4(PEX6):c.600del (p.Thr201fs)
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.668dup (p.Trp224fs)
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter) rs1770400284
NM_000287.4(PEX6):c.830T>A (p.Leu277Ter)
NM_000287.4(PEX6):c.837dup (p.Asn280Ter)
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
NM_000287.4(PEX6):c.883-2A>G
NM_000287.4(PEX6):c.883-6_887del
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
NM_000287.4(PEX6):c.916_919del (p.Lys306fs) rs2150236148
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu) rs2150236110
NM_000287.4(PEX6):c.954del (p.Arg319fs)
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)

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.