ClinVar Miner

List of variants reported as uncertain significance for Zellweger syndrome by Counsyl

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys) rs1412916235
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1440_1442TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.4(PEX6):c.541_543GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.548_550CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000318.3(PEX2):c.-17-2A>G rs1289852067
NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.2(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.122_124TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1524_1529AAAAGA[1] (p.508_509EK[1]) rs1554373613
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2817_2819TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_153818.1(PEX10):c.1012_1014del (p.Lys338del) rs1553231582
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.1039T>C (p.Ter347Arg) rs779199089
NM_153818.1(PEX10):c.1041A>G (p.Ter347Trp) rs1358135448
NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.887G>T (p.Cys296Phe) rs1414973726
NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) rs724160000
NM_153818.1(PEX10):c.915_917dup (p.Thr306dup) rs1553231765
NM_153818.1(PEX10):c.928C>G (p.His310Asp) rs61752094
NM_153818.1(PEX10):c.936_938CTG[1] (p.Cys313del) rs1438047457
NM_153818.1(PEX10):c.973-2A>C rs758250423
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001

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