ClinVar Miner

List of variants in gene PEX6 studied for Zellweger syndrome

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
NM_000287.3(PEX6):c.*168C>T rs886061410
NM_000287.3(PEX6):c.*212C>T rs1051218
NM_000287.3(PEX6):c.*319C>T rs736158
NM_000287.3(PEX6):c.*368G>A rs866465109
NM_000287.3(PEX6):c.*407T>G rs886061409
NM_000287.3(PEX6):c.*442_*445delTAAA rs144286892
NM_000287.3(PEX6):c.-39G>A rs76974379
NM_000287.3(PEX6):c.-55C>T rs9462859
NM_000287.3(PEX6):c.-62C>A rs886061413
NM_000287.3(PEX6):c.-71C>G rs886061414
NM_000287.3(PEX6):c.-79C>T rs186587060
NM_000287.3(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.3(PEX6):c.1046+1G>A rs1554127968
NM_000287.3(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.3(PEX6):c.1130+2T>C rs1416001981
NM_000287.3(PEX6):c.1233+1G>A rs763459576
NM_000287.3(PEX6):c.1234-10C>T rs370661410
NM_000287.3(PEX6):c.1234-11A>G rs201879957
NM_000287.3(PEX6):c.1234-1G>T rs1554127533
NM_000287.3(PEX6):c.1234-7_1234-6dupTT rs200121485
NM_000287.3(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.3(PEX6):c.1310G>A (p.Gly437Asp)
NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs) rs267608216
NM_000287.3(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.3(PEX6):c.133_147dup (p.Gly49_Pro50insGluSerProAlaGly) rs1421584986
NM_000287.3(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.3(PEX6):c.1368-2delA rs1554127415
NM_000287.3(PEX6):c.1387A>G (p.Thr463Ala) rs182308788
NM_000287.3(PEX6):c.1409G>C (p.Gly470Ala)
NM_000287.3(PEX6):c.1446_1448delTGC (p.Ala483del) rs1554127389
NM_000287.3(PEX6):c.1479+2delT rs1554127383
NM_000287.3(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.3(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.1941C>A (p.Cys647Ter)
NM_000287.3(PEX6):c.1947delG (p.Ile650Serfs) rs267608227
NM_000287.3(PEX6):c.1962-1G>A rs267608229
NM_000287.3(PEX6):c.202_219del18 (p.Gly68_Gln73del) rs1162020526
NM_000287.3(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.3(PEX6):c.2082delT (p.Gly695Glufs) rs766483138
NM_000287.3(PEX6):c.2095-21_2095-10delCACGCACTTTCC rs772869377
NM_000287.3(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.3(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.3(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.3(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.3(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.3(PEX6):c.2362+1G>A rs1443107232
NM_000287.3(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.3(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.3(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.3(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.3(PEX6):c.2439dup (p.Arg814Alafs) rs1554126955
NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.3(PEX6):c.2472-2A>G rs267608242
NM_000287.3(PEX6):c.254_259dup (p.Leu86_Gly87insAlaLeu) rs1554128546
NM_000287.3(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.3(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.3(PEX6):c.2667-2A>C
NM_000287.3(PEX6):c.2692delC (p.Leu898Trpfs) rs1554126798
NM_000287.3(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.3(PEX6):c.2730G>A (p.Thr910=) rs774721609
NM_000287.3(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.3(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.3(PEX6):c.275_280dup (p.Arg93_Ala94insValArg) rs61752142
NM_000287.3(PEX6):c.2764_2765delAT (p.Met922Aspfs) rs1554126781
NM_000287.3(PEX6):c.2806+1G>A rs751900826
NM_000287.3(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.3(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.3(PEX6):c.2877A>G (p.Gln959=) rs562040179
NM_000287.3(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.3(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.3(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.3(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.3(PEX6):c.311delG (p.Gly104Valfs) rs61753209
NM_000287.3(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.3(PEX6):c.385_388delGAGA (p.Glu129Profs) rs1554128501
NM_000287.3(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.3(PEX6):c.406delCinsAT (p.Pro136Ilefs) rs1554128488
NM_000287.3(PEX6):c.42_43dup (p.Glu15Alafs) rs1554128586
NM_000287.3(PEX6):c.462delG (p.Leu155Trpfs) rs1554128476
NM_000287.3(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.3(PEX6):c.503C>T (p.Pro168Leu) rs200026148
NM_000287.3(PEX6):c.506_507delAG (p.Glu169Valfs) rs1554128461
NM_000287.3(PEX6):c.510dup (p.Gly171Trpfs) rs1491384052
NM_000287.3(PEX6):c.517delA (p.Ser173Alafs) rs61753212
NM_000287.3(PEX6):c.544_546delGTG (p.Val182del) rs1554128449
NM_000287.3(PEX6):c.551_553delCCT (p.Ser184del) rs1554128446
NM_000287.3(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.3(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.3(PEX6):c.690G>A (p.Glu230=) rs368341252
NM_000287.3(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.3(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000287.3(PEX6):c.802_815del14 (p.Asp268Cysfs) rs63749004
NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.3(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.3(PEX6):c.870G>C (p.Glu290Asp) rs150358700
NM_000287.3(PEX6):c.883-3T>C rs9986447
NM_000287.3(PEX6):c.939T>C (p.Pro313=) rs151234121
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
NM_000287.4(PEX6):c.1841del (p.Leu614Argfs) rs863225083
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs)
PEX6, 1-BP DEL, 1301C
PEX6, 1-BP INS, NT511
PEX6, 20-BP DEL/1-BP INS
PEX6, IVS3DS, G-A, +1
PEX6, IVS7, G-A, +1
PEX6, IVSAS, G-A, -1, 8-BP DEL

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