ClinVar Miner

List of variants reported as uncertain significance for Pyridoxal phosphate-responsive seizures

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018129.4(PNPO):c.*1393G>A rs149121830 0.00226
NM_018129.4(PNPO):c.*818C>T rs769226094 0.00064
NM_018129.4(PNPO):c.167T>G (p.Leu56Arg) rs145461623 0.00051
NM_018129.4(PNPO):c.698G>A (p.Arg233Gln) rs144390543 0.00047
NM_018129.4(PNPO):c.*643C>T rs200316134 0.00035
NM_018129.4(PNPO):c.*729T>G rs181016187 0.00032
NM_018129.4(PNPO):c.542G>A (p.Arg181Gln) rs377328326 0.00027
NM_018129.4(PNPO):c.*1757G>T rs886053109 0.00026
NM_018129.4(PNPO):c.*895C>T rs767554923 0.00017
NM_018129.4(PNPO):c.12G>T (p.Trp4Cys) rs773614378 0.00016
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys) rs746311862 0.00013
NM_018129.4(PNPO):c.628G>T (p.Val210Phe) rs146339491 0.00013
NM_018129.4(PNPO):c.*1842A>G rs886053111 0.00011
NM_018129.4(PNPO):c.*2490C>T rs556101569 0.00007
NM_018129.4(PNPO):c.433C>T (p.Pro145Ser) rs551097300 0.00007
NM_018129.4(PNPO):c.701G>A (p.Arg234Gln) rs1446089309 0.00007
NM_018129.4(PNPO):c.*200C>T rs761169544 0.00006
NM_018129.4(PNPO):c.782C>T (p.Pro261Leu) rs769125577 0.00006
NM_018129.4(PNPO):c.37G>T (p.Gly13Trp) rs1025645549 0.00005
NM_018129.4(PNPO):c.482G>A (p.Arg161His) rs770981773 0.00004
NM_018129.4(PNPO):c.488A>G (p.Lys163Arg) rs745757220 0.00004
NM_018129.4(PNPO):c.541C>T (p.Arg181Trp) rs878944960 0.00003
NM_018129.4(PNPO):c.697C>T (p.Arg233Trp) rs139643093 0.00003
NM_018129.4(PNPO):c.745C>T (p.Arg249Cys) rs777671908 0.00003
NM_018129.4(PNPO):c.767A>G (p.Tyr256Cys) rs148784343 0.00003
NM_018129.4(PNPO):c.*72C>T rs535512907 0.00002
NM_018129.4(PNPO):c.16C>A (p.Arg6=) rs765997859 0.00002
NM_018129.4(PNPO):c.363+6T>C rs753555879 0.00002
NM_018129.4(PNPO):c.400G>C (p.Glu134Gln) rs776343192 0.00002
NM_018129.4(PNPO):c.527C>G (p.Ser176Cys) rs142969923 0.00002
NM_018129.4(PNPO):c.547-17C>G rs750566159 0.00002
NM_018129.4(PNPO):c.748G>A (p.Gly250Arg) rs751372839 0.00002
NM_018129.4(PNPO):c.*1965C>T rs1226237338 0.00001
NM_018129.4(PNPO):c.*2191A>G rs1285020542 0.00001
NM_018129.4(PNPO):c.*945C>T rs886053107 0.00001
NM_018129.4(PNPO):c.-18C>T rs886053100 0.00001
NM_018129.4(PNPO):c.-23G>A rs1445649991 0.00001
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys) rs549477447 0.00001
NM_018129.4(PNPO):c.155A>C (p.His52Pro) rs141119385 0.00001
NM_018129.4(PNPO):c.205G>A (p.Ala69Thr) rs1294398642 0.00001
NM_018129.4(PNPO):c.20G>A (p.Gly7Asp) rs1426940419 0.00001
NM_018129.4(PNPO):c.217C>T (p.Pro73Ser) rs781092815 0.00001
NM_018129.4(PNPO):c.2T>C (p.Met1Thr) rs796052870 0.00001
NM_018129.4(PNPO):c.307G>A (p.Gly103Arg) rs781657980 0.00001
NM_018129.4(PNPO):c.340G>A (p.Glu114Lys) rs796052868 0.00001
NM_018129.4(PNPO):c.359A>C (p.Glu120Ala) rs1245491170 0.00001
NM_018129.4(PNPO):c.417+6T>C rs1022514263 0.00001
NM_018129.4(PNPO):c.422G>A (p.Arg141His) rs759335202 0.00001
NM_018129.4(PNPO):c.484C>T (p.Pro162Ser) rs2036001365 0.00001
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys) rs138727329 0.00001
NM_018129.4(PNPO):c.583T>C (p.Tyr195His) rs747870171 0.00001
NM_018129.4(PNPO):c.605A>G (p.Lys202Arg) rs746525939 0.00001
NM_018129.4(PNPO):c.617+3G>A rs368997507 0.00001
NM_018129.4(PNPO):c.62A>T (p.Tyr21Phe) rs766650337 0.00001
NM_018129.4(PNPO):c.643G>T (p.Val215Leu) rs1307726861 0.00001
NM_018129.4(PNPO):c.667A>G (p.Thr223Ala) rs1598200536 0.00001
NM_018129.4(PNPO):c.679C>T (p.His227Tyr) rs762176765 0.00001
NM_018129.4(PNPO):c.712A>G (p.Thr238Ala) rs2036015392 0.00001
NM_018129.4(PNPO):c.736A>G (p.Met246Val) rs1233788410 0.00001
NM_018129.4(PNPO):c.83G>A (p.Arg28His) rs866973135 0.00001
NM_018129.4(PNPO):c.89C>T (p.Ala30Val) rs796052871 0.00001
NM_018129.4(PNPO):c.91G>C (p.Ala31Pro) rs765314515 0.00001
NC_000017.10:g.(?_46019042)_(46024148_?)dup
NM_018129.4(PNPO):c.*1123G>A rs886053108
NM_018129.4(PNPO):c.*1190A>G rs2036031977
NM_018129.4(PNPO):c.*141C>T rs967569458
NM_018129.4(PNPO):c.*1513G>T rs776945316
NM_018129.4(PNPO):c.*1777C>G rs886053110
NM_018129.4(PNPO):c.*1803C>A rs2036038077
NM_018129.4(PNPO):c.*282_*283insAG rs886053102
NM_018129.4(PNPO):c.*656_*657dup rs35312568
NM_018129.4(PNPO):c.*731del rs796725211
NM_018129.4(PNPO):c.*738TTCTTTT[3] rs886053104
NM_018129.4(PNPO):c.*791G>A rs886053106
NM_018129.4(PNPO):c.*84A>T rs1205048579
NM_018129.4(PNPO):c.*877G>T rs1403002079
NM_018129.4(PNPO):c.-19A>G rs886053099
NM_018129.4(PNPO):c.106C>T (p.Pro36Ser) rs2035939125
NM_018129.4(PNPO):c.110T>C (p.Met37Thr) rs2035939209
NM_018129.4(PNPO):c.112C>A (p.Arg38Ser) rs866454740
NM_018129.4(PNPO):c.114C>T (p.Arg38=)
NM_018129.4(PNPO):c.119G>A (p.Ser40Asn) rs797045893
NM_018129.4(PNPO):c.11G>C (p.Trp4Ser) rs1466672254
NM_018129.4(PNPO):c.124C>T (p.Arg42Cys) rs1291472865
NM_018129.4(PNPO):c.127G>C (p.Gly43Arg) rs867426939
NM_018129.4(PNPO):c.130G>C (p.Asp44His)
NM_018129.4(PNPO):c.134G>A (p.Arg45Gln) rs975643797
NM_018129.4(PNPO):c.139G>A (p.Ala47Thr) rs2035966950
NM_018129.4(PNPO):c.140C>T (p.Ala47Val) rs2144160555
NM_018129.4(PNPO):c.154C>T (p.His52Tyr)
NM_018129.4(PNPO):c.160A>T (p.Thr54Ser) rs2144160632
NM_018129.4(PNPO):c.16C>T (p.Arg6Trp) rs765997859
NM_018129.4(PNPO):c.184T>C (p.Phe62Leu) rs1598197051
NM_018129.4(PNPO):c.226G>A (p.Gly76Arg) rs370329917
NM_018129.4(PNPO):c.22G>A (p.Val8Ile) rs2144155842
NM_018129.4(PNPO):c.236A>G (p.Asn79Ser) rs755839067
NM_018129.4(PNPO):c.242T>A (p.Met81Lys)
NM_018129.4(PNPO):c.244T>C (p.Cys82Arg)
NM_018129.4(PNPO):c.257G>A (p.Cys86Tyr) rs2035969639
NM_018129.4(PNPO):c.263+3G>A rs1598197140
NM_018129.4(PNPO):c.263+6C>T rs2144160857
NM_018129.4(PNPO):c.263G>T (p.Arg88Ile) rs2144160841
NM_018129.4(PNPO):c.264-3T>C
NM_018129.4(PNPO):c.269G>A (p.Gly90Glu) rs1489587035
NM_018129.4(PNPO):c.281C>T (p.Ala94Val) rs1555563203
NM_018129.4(PNPO):c.283C>A (p.Arg95Ser) rs1483600034
NM_018129.4(PNPO):c.28G>C (p.Ala10Pro) rs895290391
NM_018129.4(PNPO):c.301G>A (p.Gly101Ser)
NM_018129.4(PNPO):c.304T>G (p.Phe102Val)
NM_018129.4(PNPO):c.310A>G (p.Lys104Glu) rs2144162999
NM_018129.4(PNPO):c.319T>G (p.Phe107Val) rs2035985793
NM_018129.4(PNPO):c.323G>A (p.Arg108His) rs769985808
NM_018129.4(PNPO):c.323G>T (p.Arg108Leu) rs769985808
NM_018129.4(PNPO):c.356A>G (p.Lys119Arg) rs2144163109
NM_018129.4(PNPO):c.385C>T (p.Leu129Phe) rs891457932
NM_018129.4(PNPO):c.394T>C (p.Tyr132His)
NM_018129.4(PNPO):c.395A>G (p.Tyr132Cys) rs1567713601
NM_018129.4(PNPO):c.422_433del (p.Arg141_Gly144del)
NM_018129.4(PNPO):c.431G>A (p.Gly144Asp) rs762554901
NM_018129.4(PNPO):c.431G>C (p.Gly144Ala) rs762554901
NM_018129.4(PNPO):c.434C>T (p.Pro145Leu) rs373528454
NM_018129.4(PNPO):c.439A>G (p.Lys147Glu)
NM_018129.4(PNPO):c.442A>C (p.Lys148Gln) rs2036000732
NM_018129.4(PNPO):c.485C>T (p.Pro162Leu) rs2144165302
NM_018129.4(PNPO):c.4A>G (p.Thr2Ala) rs2035936049
NM_018129.4(PNPO):c.506C>T (p.Ala169Val) rs1370405581
NM_018129.4(PNPO):c.509T>C (p.Val170Ala)
NM_018129.4(PNPO):c.539_541dup (p.Asp180_Arg181insHis) rs1131691848
NM_018129.4(PNPO):c.547T>G (p.Tyr183Asp) rs1315253583
NM_018129.4(PNPO):c.549T>C (p.Tyr183=) rs2036008214
NM_018129.4(PNPO):c.59G>C (p.Gly20Ala) rs906198568
NM_018129.4(PNPO):c.59G>T (p.Gly20Val) rs906198568
NM_018129.4(PNPO):c.628G>C (p.Val210Leu)
NM_018129.4(PNPO):c.652T>C (p.Phe218Leu)
NM_018129.4(PNPO):c.659A>G (p.Gln220Arg)
NM_018129.4(PNPO):c.668C>T (p.Thr223Ile) rs886053101
NM_018129.4(PNPO):c.692T>A (p.Val231Asp)
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp) rs368943864
NM_018129.4(PNPO):c.718G>T (p.Asp240Tyr) rs1178667430
NM_018129.4(PNPO):c.720T>G (p.Asp240Glu) rs886937123
NM_018129.4(PNPO):c.722C>A (p.Ser241Tyr) rs2036015748
NM_018129.4(PNPO):c.734C>T (p.Pro245Leu) rs2036016316
NM_018129.4(PNPO):c.746G>A (p.Arg249His)
NM_018129.4(PNPO):c.751del (p.Glu251fs) rs1567714242
NM_018129.4(PNPO):c.759C>G (p.Asp253Glu) rs757023013
NM_018129.4(PNPO):c.83G>T (p.Arg28Leu)

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.