ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
Download table as spreadsheet
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+15C>T
NM_002857.4(PEX19):c.180+16C>G
NM_002857.4(PEX19):c.181-12C>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.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.346+15G>A rs369060714
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.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.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.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+20C>T
NM_002857.4(PEX19):c.817-13A>T rs1657690599
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.