ClinVar Miner

List of variants reported as uncertain significance for peroxisomal disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile) rs17855420 0.00043
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His) rs35281104 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro) rs765322702 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_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00018
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg) rs756260598 0.00013
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro) rs143243841 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_002979.5(SCP2):c.230A>G (p.Tyr77Cys) rs138573524 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His) rs754637713 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) rs369527712 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) rs200919340 0.00005
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys) rs150822308 0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) rs201563848 0.00004
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) rs376116716 0.00003
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 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.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_004035.7(ACOX1):c.1469G>A (p.Arg490His) rs762956777 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp) rs777768049 0.00001
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu) rs774180397 0.00001
NM_000030.3(AGXT):c.1006G>A (p.Val336Ile)
NM_000030.3(AGXT):c.1015G>A (p.Val339Ile)
NM_000030.3(AGXT):c.1033A>G (p.Ile345Val)
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1124G>A (p.Arg375His)
NM_000030.3(AGXT):c.1130C>T (p.Thr377Met)
NM_000030.3(AGXT):c.1144G>A (p.Ala382Thr)
NM_000030.3(AGXT):c.124G>A (p.Gly42Arg)
NM_000030.3(AGXT):c.166-3C>G
NM_000030.3(AGXT):c.185A>C (p.Glu62Ala)
NM_000030.3(AGXT):c.194A>G (p.Gln65Arg)
NM_000030.3(AGXT):c.216C>G (p.Asn72Lys)
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
NM_000030.3(AGXT):c.275A>G (p.Asn92Ser)
NM_000030.3(AGXT):c.284A>T (p.Glu95Val)
NM_000030.3(AGXT):c.28C>A (p.Pro10Thr)
NM_000030.3(AGXT):c.317G>A (p.Gly106Asp)
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.368T>A (p.Val123Glu)
NM_000030.3(AGXT):c.391G>A (p.Gly131Arg)
NM_000030.3(AGXT):c.395G>A (p.Gly132Asp)
NM_000030.3(AGXT):c.418G>A (p.Glu140Lys)
NM_000030.3(AGXT):c.437A>G (p.His146Arg)
NM_000030.3(AGXT):c.467G>A (p.Gly156Glu)
NM_000030.3(AGXT):c.4G>A (p.Ala2Thr)
NM_000030.3(AGXT):c.572C>T (p.Thr191Ile)
NM_000030.3(AGXT):c.588C>A (p.Asp196Glu)
NM_000030.3(AGXT):c.615G>A (p.Ser205=)
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.701A>G (p.Lys234Arg)
NM_000030.3(AGXT):c.719_721del (p.Phe240del)
NM_000030.3(AGXT):c.726G>A (p.Leu242=)
NM_000030.3(AGXT):c.761A>C (p.Asp254Ala)
NM_000030.3(AGXT):c.763G>A (p.Asp255Asn)
NM_000030.3(AGXT):c.847-3C>T
NM_000030.3(AGXT):c.85G>A (p.Gly29Ser)
NM_000030.3(AGXT):c.876C>T (p.Arg292=)
NM_000030.3(AGXT):c.887C>T (p.Ala296Val)
NM_000030.3(AGXT):c.931G>A (p.Val311Met)
NM_000030.3(AGXT):c.941C>T (p.Pro314Leu)
NM_000030.3(AGXT):c.942+3A>T
NM_000030.3(AGXT):c.943G>A (p.Ala315Thr)
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
NM_000030.3(AGXT):c.950G>C (p.Arg317Pro)
NM_000030.3(AGXT):c.982G>A (p.Ala328Thr)
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000318.3(PEX2):c.550_551inv (p.Cys184His)
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr) rs2126781071
NM_000414.4(HSD17B4):c.1714A>G (p.Thr572Ala)
NM_000414.4(HSD17B4):c.1729A>G (p.Met577Val)
NM_000414.4(HSD17B4):c.2002C>G (p.Leu668Val)
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000466.3(PEX1):c.1138A>C (p.Lys380Gln)
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly) rs1792836885
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_001277062.2(MFF):c.223G>A (p.Asp75Asn)
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)
NM_004565.3(PEX14):c.862G>A (p.Val288Ile) rs1207319506
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp) rs145404396
NM_014236.4(GNPAT):c.1603-3T>G

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