ClinVar Miner

List of variants reported as likely benign for peroxisomal disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.*587A>G rs72902478 0.06684
NM_014324.6(AMACR):c.*963C>T rs6898962 0.04660
NM_002857.3(PEX19):c.-41C>T rs113442137 0.04456
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_014324.6(AMACR):c.*1070C>T rs16892064 0.03353
NM_004813.2(PEX16):c.-279G>A rs2280330 0.02963
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
NM_000287.4(PEX6):c.*212C>T rs1051218 0.02308
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_001351132.2(PEX5):c.*794_*795dup rs112785895 0.02091
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_000033.4(ABCD1):c.*668C>T rs187420166 0.01599
NM_001127649.3(PEX26):c.-363G>C rs138787474 0.01598
NM_002857.4(PEX19):c.*2057T>G rs56089807 0.01433
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_001351132.2(PEX5):c.-17+188T>C rs186539500 0.01324
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_000033.4(ABCD1):c.*123C>T rs186542134 0.01092
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_004035.7(ACOX1):c.*4250T>G rs112541815 0.01052
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_003659.4(AGPS):c.*1701T>C rs189318576 0.00996
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613 0.00869
NM_014324.6(AMACR):c.*1804G>T rs116206502 0.00859
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_014324.6(AMACR):c.*976G>A rs150664086 0.00754
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_006214.4(PHYH):c.678+15C>T rs140995522 0.00717
NM_004035.7(ACOX1):c.*4551C>T rs139936850 0.00697
NM_001127649.3(PEX26):c.*2162G>A rs45489191 0.00688
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_000318.3(PEX2):c.*319A>G rs78045204 0.00610
NM_004035.7(ACOX1):c.*5134A>G rs116309575 0.00587
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_001127649.3(PEX26):c.*2311G>T rs74714634 0.00524
NM_000318.3(PEX2):c.*1842G>C rs184573256 0.00523
NM_001127649.3(PEX26):c.*925A>G rs115277831 0.00523
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_001351132.2(PEX5):c.*20G>C rs145760932 0.00512
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000318.3(PEX2):c.*1040C>G rs139337482 0.00490
NM_001351132.2(PEX5):c.*1097T>C rs116107198 0.00489
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_003630.3(PEX3):c.-4A>G rs116692495 0.00446
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_004035.7(ACOX1):c.*2575T>C rs115141246 0.00429
NM_000286.3(PEX12):c.*509T>G rs192370696 0.00415
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_002617.4(PEX10):c.*676C>T rs77863194 0.00408
NM_004035.7(ACOX1):c.954A>G (p.Glu318=) rs16968343 0.00404
NM_001127649.3(PEX26):c.815-13C>T rs139370593 0.00381
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_002617.4(PEX10):c.*595G>A rs72924937 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000318.3(PEX2):c.*2443A>G rs76770837 0.00372
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_006214.4(PHYH):c.*22T>G rs186628076 0.00370
NM_015294.6(TRIM37):c.1748C>A (p.Pro583His) rs147363016 0.00368
NM_000318.3(PEX2):c.*789C>T rs144050052 0.00361
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_003659.4(AGPS):c.*385G>C rs114266155 0.00346
NM_002618.4(PEX13):c.-6G>C rs147461642 0.00345
NM_015294.6(TRIM37):c.*759T>C rs191702204 0.00341
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_000414.4(HSD17B4):c.-28C>T rs34353289 0.00334
NM_001351132.2(PEX5):c.*114C>T rs187571620 0.00329
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_000318.3(PEX2):c.*1448C>T rs184740361 0.00303
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_002618.4(PEX13):c.*944C>T rs148184159 0.00287
NM_003659.4(AGPS):c.*5124C>T rs145417594 0.00286
NM_002618.4(PEX13):c.*3012A>G rs144691386 0.00283
NM_002618.4(PEX13):c.*1724A>T rs137932203 0.00282
NM_003659.4(AGPS):c.*4255T>G rs190967028 0.00272
NM_015294.6(TRIM37):c.2049C>T (p.Ala683=) rs35871562 0.00253
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_004035.7(ACOX1):c.*1813C>T rs144899104 0.00228
NM_004035.7(ACOX1):c.*3988A>T rs149774605 0.00227
NM_014324.6(AMACR):c.*1945A>G rs79880451 0.00225
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_001127649.3(PEX26):c.*279G>A rs147096782 0.00208
NM_000414.4(HSD17B4):c.*83T>G rs181310520 0.00199
NM_004813.4(PEX16):c.*10C>T rs201127195 0.00197
NM_006214.4(PHYH):c.*47G>A rs180770135 0.00192
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_003630.3(PEX3):c.*391G>A rs140007169 0.00129
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_014324.6(AMACR):c.*1203A>G rs190329271 0.00108
NM_001351132.2(PEX5):c.*462G>C rs75145323 0.00089
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_002857.4(PEX19):c.*1802G>C rs745362133 0.00079
NM_014324.6(AMACR):c.*1928T>C rs531992128 0.00079
NM_000318.3(PEX2):c.*1765G>A rs60300869 0.00063
NM_000318.3(PEX2):c.*2004C>T rs117344716 0.00048
NM_000318.3(PEX2):c.*233C>G rs190595998 0.00046
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_003630.3(PEX3):c.*1335A>G rs9403495 0.00037
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_014324.6(AMACR):c.*1366A>G rs530507195 0.00032
NM_015294.6(TRIM37):c.1754-3C>T rs373120070 0.00031
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) rs767584572 0.00029
NM_001127649.3(PEX26):c.*114C>T rs45500699 0.00028
NM_001351132.2(PEX5):c.-17+273G>T rs117442311 0.00027
NM_003630.3(PEX3):c.*895G>A rs3804545 0.00027
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_002857.4(PEX19):c.*169C>T rs192931972 0.00016
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
NM_014324.6(AMACR):c.438G>A (p.Pro146=) rs140523570 0.00013
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_003659.4(AGPS):c.157C>T (p.Leu53=) rs77810072 0.00011
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_014324.6(AMACR):c.*449T>C rs550502356 0.00007
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_001127649.3(PEX26):c.*566T>C rs541332240 0.00006
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) rs557931141 0.00005
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=) rs151138534 0.00005
NM_003659.4(AGPS):c.*3073A>G rs532442888 0.00003
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) rs74315281 0.00002
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_015294.6(TRIM37):c.*658A>G rs553012670 0.00001
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000318.3(PEX2):c.*103C>G rs529963492
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_001127649.3(PEX26):c.*1740C>G rs139987168
NM_001127649.3(PEX26):c.*2703G>A rs186314626
NM_001351132.2(PEX5):c.-17+151G>A rs146875386
NM_003659.4(AGPS):c.*1713TGA[1] rs143451487
NM_003659.4(AGPS):c.*4660del rs144602349
NM_003659.4(AGPS):c.*5023C>A rs148879448
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_004035.6(ACOX1):c.-317G>A rs3760132
NM_004035.7(ACOX1):c.*1135_*1141del rs148425334
NM_004035.7(ACOX1):c.*4472dup rs59512794
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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