ClinVar Miner

List of variants in gene PEX19 reported as likely benign for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_002857.3(PEX19):c.-41C>T rs113442137 0.04456
NM_002857.4(PEX19):c.*2057T>G rs56089807 0.01433
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_002857.4(PEX19):c.*1802G>C rs745362133 0.00079
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_002857.4(PEX19):c.87C>T (p.Phe29=) rs141911166 0.00048
NM_002857.4(PEX19):c.255G>A (p.Ala85=) rs150928521 0.00043
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_002857.4(PEX19):c.457C>T (p.Leu153=) rs752489082 0.00022
NM_002857.4(PEX19):c.504A>G (p.Glu168=) rs200311685 0.00018
NM_002857.4(PEX19):c.*169C>T rs192931972 0.00016
NM_002857.4(PEX19):c.21C>G (p.Gly7=) rs140039683 0.00016
NM_002857.4(PEX19):c.195T>C (p.Ala65=) rs777582215 0.00011
NM_002857.4(PEX19):c.690G>A (p.Glu230=) rs146626996 0.00011
NM_002857.4(PEX19):c.546A>G (p.Leu182=) rs138837673 0.00010
NM_002857.4(PEX19):c.816+14A>T rs558387492 0.00009
NM_002857.4(PEX19):c.771+18C>T rs1336101202 0.00008
NM_002857.4(PEX19):c.347-7C>T rs753523567 0.00006
NM_002857.4(PEX19):c.348C>T (p.Gly116=) rs144361779 0.00006
NM_002857.4(PEX19):c.159A>G (p.Arg53=) rs1218867675 0.00004
NM_002857.4(PEX19):c.595-19C>T rs764622800 0.00004
NM_002857.4(PEX19):c.70+8C>T rs371723760 0.00004
NM_002857.4(PEX19):c.786C>T (p.Gly262=) rs146846475 0.00004
NM_002857.4(PEX19):c.225C>T (p.Phe75=) rs751536744 0.00003
NM_002857.4(PEX19):c.432+12G>A rs1265994490 0.00003
NM_002857.4(PEX19):c.595-17A>G rs753045868 0.00003
NM_002857.4(PEX19):c.772-8T>C rs367964884 0.00003
NM_002857.4(PEX19):c.181-4G>A rs747572423 0.00002
NM_002857.4(PEX19):c.192C>T (p.Phe64=) rs750771594 0.00002
NM_002857.4(PEX19):c.219A>G (p.Glu73=) rs767113471 0.00002
NM_002857.4(PEX19):c.447G>A (p.Ser149=) rs749234062 0.00002
NM_002857.4(PEX19):c.669C>T (p.Ser223=) rs375907790 0.00002
NM_002857.4(PEX19):c.772-7T>C rs777254776 0.00002
NM_002857.4(PEX19):c.783A>G (p.Leu261=) rs754972525 0.00002
NM_002857.4(PEX19):c.129G>A (p.Thr43=) rs921113258 0.00001
NM_002857.4(PEX19):c.12T>C (p.Ala4=) rs1657962000 0.00001
NM_002857.4(PEX19):c.180+13C>A rs1420876010 0.00001
NM_002857.4(PEX19):c.198C>T (p.Ser66=) rs1332354119 0.00001
NM_002857.4(PEX19):c.249C>T (p.Ala83=) rs1359237654 0.00001
NM_002857.4(PEX19):c.366A>G (p.Gln122=) rs930041404 0.00001
NM_002857.4(PEX19):c.397C>T (p.Leu133=) rs146321212 0.00001
NM_002857.4(PEX19):c.433-6A>G rs775148442 0.00001
NM_002857.4(PEX19):c.489C>T (p.Asp163=) rs765686168 0.00001
NM_002857.4(PEX19):c.552C>T (p.Ser184=) rs1399277810 0.00001
NM_002857.4(PEX19):c.595-12C>T rs907000189 0.00001
NM_002857.4(PEX19):c.595-18C>G rs371272792 0.00001
NM_002857.4(PEX19):c.735G>A (p.Lys245=) rs749331745 0.00001
NM_002857.4(PEX19):c.816+7A>G rs776784191 0.00001
NM_002857.4(PEX19):c.867A>G (p.Pro289=) rs1657686642 0.00001
NM_002857.4(PEX19):c.105C>T (p.Ser35=)
NM_002857.4(PEX19):c.132C>T (p.Ala44=) rs1657875449
NM_002857.4(PEX19):c.144G>A (p.Ser48=) rs1272211650
NM_002857.4(PEX19):c.144G>C (p.Ser48=)
NM_002857.4(PEX19):c.147G>T (p.Gly49=)
NM_002857.4(PEX19):c.150C>T (p.Pro50=)
NM_002857.4(PEX19):c.162G>A (p.Ser54=) rs540593146
NM_002857.4(PEX19):c.162G>T (p.Ser54=) rs540593146
NM_002857.4(PEX19):c.174T>G (p.Thr58=) rs1657872690
NM_002857.4(PEX19):c.180+13C>T
NM_002857.4(PEX19):c.180+14C>T
NM_002857.4(PEX19):c.180+15C>T
NM_002857.4(PEX19):c.180+16C>G
NM_002857.4(PEX19):c.181-12C>T
NM_002857.4(PEX19):c.181-13C>T
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002857.4(PEX19):c.181-15A>T rs114403769
NM_002857.4(PEX19):c.181-16C>T rs1657850255
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.181-6C>G
NM_002857.4(PEX19):c.181-6C>T rs570376017
NM_002857.4(PEX19):c.181-9C>T
NM_002857.4(PEX19):c.186C>A (p.Ala62=)
NM_002857.4(PEX19):c.21C>T (p.Gly7=) rs140039683
NM_002857.4(PEX19):c.222A>G (p.Leu74=)
NM_002857.4(PEX19):c.234A>G (p.Glu78=) rs2101804754
NM_002857.4(PEX19):c.235C>T (p.Leu79=)
NM_002857.4(PEX19):c.237G>T (p.Leu79=)
NM_002857.4(PEX19):c.27T>C (p.Ser9=)
NM_002857.4(PEX19):c.280T>C (p.Leu94=)
NM_002857.4(PEX19):c.306G>A (p.Val102=) rs2101804535
NM_002857.4(PEX19):c.30C>A (p.Val10=)
NM_002857.4(PEX19):c.30C>G (p.Val10=) rs144440223
NM_002857.4(PEX19):c.336A>C (p.Ala112=)
NM_002857.4(PEX19):c.346+15G>A rs369060714
NM_002857.4(PEX19):c.346+20A>T
NM_002857.4(PEX19):c.346+7A>G rs1657837179
NM_002857.4(PEX19):c.346+9A>G
NM_002857.4(PEX19):c.347-19C>T rs2101803474
NM_002857.4(PEX19):c.347-20G>A rs1557854826
NM_002857.4(PEX19):c.347-5C>T
NM_002857.4(PEX19):c.347-8T>C rs2101803453
NM_002857.4(PEX19):c.354T>C (p.Asp118=)
NM_002857.4(PEX19):c.360C>T (p.Thr120=)
NM_002857.4(PEX19):c.369A>G (p.Gln123=) rs749676675
NM_002857.4(PEX19):c.381T>G (p.Ser127=)
NM_002857.4(PEX19):c.387A>G (p.Leu129=)
NM_002857.4(PEX19):c.42G>C (p.Ala14=) rs1357331804
NM_002857.4(PEX19):c.432+15G>C rs1243733740
NM_002857.4(PEX19):c.432+8G>A
NM_002857.4(PEX19):c.433-10T>C rs2101802831
NM_002857.4(PEX19):c.433-11G>C rs41265791
NM_002857.4(PEX19):c.433-15_433-12del
NM_002857.4(PEX19):c.433-9C>T
NM_002857.4(PEX19):c.438C>T (p.Ser146=)
NM_002857.4(PEX19):c.441C>T (p.Ser147=) rs745392627
NM_002857.4(PEX19):c.447G>C (p.Ser149=)
NM_002857.4(PEX19):c.477G>A (p.Gly159=)
NM_002857.4(PEX19):c.483C>T (p.Gly161=)
NM_002857.4(PEX19):c.513C>T (p.Ile171=)
NM_002857.4(PEX19):c.543C>T (p.Asn181=)
NM_002857.4(PEX19):c.567C>T (p.Tyr189=) rs2101802465
NM_002857.4(PEX19):c.573A>C (p.Ser191=)
NM_002857.4(PEX19):c.582G>A (p.Glu194=) rs1571137550
NM_002857.4(PEX19):c.594+11T>G rs1657789996
NM_002857.4(PEX19):c.594+15A>G
NM_002857.4(PEX19):c.594+9A>G rs1571137524
NM_002857.4(PEX19):c.595-14CT[2] rs753492350
NM_002857.4(PEX19):c.595-20C>T
NM_002857.4(PEX19):c.600A>G (p.Pro200=)
NM_002857.4(PEX19):c.621G>A (p.Arg207=) rs1657714023
NM_002857.4(PEX19):c.627T>C (p.Ser209=)
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.630A>G (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.633T>C (p.Pro211=)
NM_002857.4(PEX19):c.654T>C (p.Tyr218=)
NM_002857.4(PEX19):c.69A>G (p.Glu23=) rs1657956169
NM_002857.4(PEX19):c.6C>T (p.Ala2=)
NM_002857.4(PEX19):c.70+18del rs1254590800
NM_002857.4(PEX19):c.70+7G>T rs758203051
NM_002857.4(PEX19):c.70+9C>A rs367604409
NM_002857.4(PEX19):c.70+9C>G rs367604409
NM_002857.4(PEX19):c.70+9C>T rs367604409
NM_002857.4(PEX19):c.70+9_70+10insCGCT rs777854895
NM_002857.4(PEX19):c.708C>T (p.Thr236=)
NM_002857.4(PEX19):c.71-15C>T
NM_002857.4(PEX19):c.71-15CT[3] rs756418503
NM_002857.4(PEX19):c.71-16T>C rs2101805960
NM_002857.4(PEX19):c.717C>T (p.Asp239=)
NM_002857.4(PEX19):c.72T>C (p.Ser24=)
NM_002857.4(PEX19):c.771+12T>A rs753423401
NM_002857.4(PEX19):c.772-12C>T
NM_002857.4(PEX19):c.772-4C>T
NM_002857.4(PEX19):c.772-9del rs2101799481
NM_002857.4(PEX19):c.774A>G (p.Leu258=) rs1657698317
NM_002857.4(PEX19):c.816+13T>A rs1432895271
NM_002857.4(PEX19):c.816+15T>C rs1318227463
NM_002857.4(PEX19):c.816+17T>C
NM_002857.4(PEX19):c.816+20C>T
NM_002857.4(PEX19):c.816+9G>T
NM_002857.4(PEX19):c.817-13A>T rs1657690599
NM_002857.4(PEX19):c.817-15T>G
NM_002857.4(PEX19):c.817-18C>T
NM_002857.4(PEX19):c.817-19C>T rs1284493350
NM_002857.4(PEX19):c.817-6C>T
NM_002857.4(PEX19):c.825C>T (p.Gly275=)
NM_002857.4(PEX19):c.843T>C (p.Asp281=)

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