ClinVar Miner

List of variants in gene PPOX studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000001.11:g.161165769A>G rs2502806 0.71410
NM_001122764.3(PPOX):c.-247C>A rs2301286 0.34791
NM_001122764.3(PPOX):c.987+137C>T rs12741203 0.24982
NM_001122764.3(PPOX):c.338+182G>A rs7544090 0.08792
NM_001122764.3(PPOX):c.-128C>G rs72714915 0.05168
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429 0.04522
NM_001122764.3(PPOX):c.-151G>T rs115158839 0.01570
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_001122764.3(PPOX):c.987+16G>A rs185558102 0.00322
NM_001122764.3(PPOX):c.1248+5G>C rs140861330 0.00249
NM_001122764.3(PPOX):c.-246G>T rs114493458 0.00229
NM_001122764.3(PPOX):c.1248+16C>A rs75856547 0.00179
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) rs112762537 0.00140
NM_001122764.3(PPOX):c.87+13C>T rs201155115 0.00103
NM_001122764.3(PPOX):c.617-6C>T rs200192089 0.00071
NM_001122764.3(PPOX):c.471+3G>A rs200920978 0.00037
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) rs148730591 0.00009
NM_001122764.3(PPOX):c.1248+4A>G rs775748399 0.00006
NM_001122764.3(PPOX):c.71C>T (p.Ala24Val) rs767225561 0.00006
NM_001122764.3(PPOX):c.936G>A (p.Val312=) rs751511778 0.00006
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) rs772971420 0.00004
NM_001122764.3(PPOX):c.658T>C (p.Leu220=) rs547874675 0.00004
NM_001122764.3(PPOX):c.843C>T (p.His281=) rs150603927 0.00004
NM_001122764.3(PPOX):c.477G>A (p.Ala159=) rs764721329 0.00003
NM_001122764.3(PPOX):c.1098+9G>A rs201450061 0.00002
NM_001122764.3(PPOX):c.300C>T (p.Tyr100=) rs375823037 0.00002
NM_001122764.3(PPOX):c.842A>G (p.His281Arg) rs1288034269 0.00002
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) rs145286580 0.00002
NM_001122764.3(PPOX):c.87+10C>T rs769695111 0.00002
NM_001122764.3(PPOX):c.1006C>G (p.Pro336Ala) rs1252661884 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001122764.3(PPOX):c.1291+1G>C rs1571418365 0.00001
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121 0.00001
NM_001122764.3(PPOX):c.263G>T (p.Arg88Leu) rs943768360 0.00001
NM_001122764.3(PPOX):c.361C>A (p.Pro121Thr) rs532136485 0.00001
NM_001122764.3(PPOX):c.494G>A (p.Ser165Asn) rs762605289 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001122764.3(PPOX):c.565C>T (p.Gln189Ter) rs956668146 0.00001
NM_001122764.3(PPOX):c.650G>A (p.Arg217His) rs142407722 0.00001
NM_001122764.3(PPOX):c.661G>A (p.Ala221Thr) rs952064540 0.00001
NM_001122764.3(PPOX):c.70G>A (p.Ala24Thr) rs758933562 0.00001
NM_001122764.3(PPOX):c.72C>A (p.Ala24=) rs752272783 0.00001
NM_001122764.3(PPOX):c.742G>C (p.Gly248Arg) rs767772339 0.00001
NM_001122764.3(PPOX):c.744G>A (p.Gly248=) rs752880901 0.00001
NM_001122764.3(PPOX):c.803G>A (p.Trp268Ter) rs1340140983 0.00001
NC_000001.10:g.(?_161137765)_(161138386_?)del
NM_001122764.3(PPOX):c.-9G>A
NM_001122764.3(PPOX):c.100G>A (p.Glu34Lys) rs1659269072
NM_001122764.3(PPOX):c.1010C>G (p.Ser337Cys)
NM_001122764.3(PPOX):c.1014AGA[1] (p.Glu339del)
NM_001122764.3(PPOX):c.1018_1020del (p.Asp340del) rs1660909131
NM_001122764.3(PPOX):c.1041G>T (p.Val347=) rs2101898518
NM_001122764.3(PPOX):c.1042dup (p.Tyr348fs) rs2101898546
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) rs771215757
NM_001122764.3(PPOX):c.1065G>C (p.Glu355Asp)
NM_001122764.3(PPOX):c.1070A>C (p.Asp357Ala)
NM_001122764.3(PPOX):c.1071C>T (p.Asp357=)
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)
NM_001122764.3(PPOX):c.1091_1092delinsAG (p.Arg364Lys) rs1660932843
NM_001122764.3(PPOX):c.1092_1093del (p.Arg364fs) rs1571406458
NM_001122764.3(PPOX):c.1096A>C (p.Thr366Pro)
NM_001122764.3(PPOX):c.1097C>T (p.Thr366Ile)
NM_001122764.3(PPOX):c.1114T>C (p.Ser372Pro)
NM_001122764.3(PPOX):c.113G>C (p.Arg38Pro)
NM_001122764.3(PPOX):c.1147_1148del (p.Val383fs) rs2101901339
NM_001122764.3(PPOX):c.1154C>T (p.Ser385Phe)
NM_001122764.3(PPOX):c.1160A>G (p.Glu387Gly)
NM_001122764.3(PPOX):c.1164G>C (p.Leu388=)
NM_001122764.3(PPOX):c.1175G>A (p.Arg392Gln)
NM_001122764.3(PPOX):c.1198C>A (p.Gln400Lys) rs2101901963
NM_001122764.3(PPOX):c.1243C>T (p.His415Tyr)
NM_001122764.3(PPOX):c.1248+19C>T
NM_001122764.3(PPOX):c.1249-10C>G
NM_001122764.3(PPOX):c.1249-12_1249-8del
NM_001122764.3(PPOX):c.1249-2A>G
NM_001122764.3(PPOX):c.1263G>A (p.Gln421=) rs370738994
NM_001122764.3(PPOX):c.1263G>C (p.Gln421His) rs370738994
NM_001122764.3(PPOX):c.1280G>A (p.Trp427Ter) rs1485065423
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter) rs1057518798
NM_001122764.3(PPOX):c.1281G>C (p.Trp427Cys)
NM_001122764.3(PPOX):c.1287del (p.Lys429fs)
NM_001122764.3(PPOX):c.1289dup (p.Glu431fs)
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=) rs1661206662
NM_001122764.3(PPOX):c.1315_1316delinsAT (p.Ala439Ile)
NM_001122764.3(PPOX):c.1316C>G (p.Ala439Gly)
NM_001122764.3(PPOX):c.1317T>C (p.Ala439=)
NM_001122764.3(PPOX):c.1317T>G (p.Ala439=) rs371241187
NM_001122764.3(PPOX):c.1325T>A (p.Leu442Ter)
NM_001122764.3(PPOX):c.1330_1331del (p.Leu444fs)
NM_001122764.3(PPOX):c.1331del (p.Leu444fs)
NM_001122764.3(PPOX):c.133del (p.Ser45fs) rs2101846610
NM_001122764.3(PPOX):c.134C>A (p.Ser45Tyr)
NM_001122764.3(PPOX):c.1353T>C (p.Tyr451=)
NM_001122764.3(PPOX):c.1358G>A (p.Gly453Glu) rs1661249377
NM_001122764.3(PPOX):c.1361T>A (p.Val454Asp)
NM_001122764.3(PPOX):c.1390C>T (p.Arg464Cys)
NM_001122764.3(PPOX):c.139C>T (p.Arg47Ter) rs1659274238
NM_001122764.3(PPOX):c.1421A>G (p.Glu474Gly)
NM_001122764.3(PPOX):c.157A>G (p.Ile53Val)
NM_001122764.3(PPOX):c.164A>C (p.Glu55Ala)
NM_001122764.3(PPOX):c.168T>C (p.Leu56=)
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.208C>T (p.Arg70Trp)
NM_001122764.3(PPOX):c.213C>A (p.Thr71=)
NM_001122764.3(PPOX):c.218T>C (p.Leu73Pro)
NM_001122764.3(PPOX):c.219C>T (p.Leu73=) rs1293047678
NM_001122764.3(PPOX):c.23T>C (p.Leu8Pro) rs1659110959
NM_001122764.3(PPOX):c.245C>T (p.Ser82Leu)
NM_001122764.3(PPOX):c.251T>G (p.Val84Gly)
NM_001122764.3(PPOX):c.254T>C (p.Leu85Pro) rs910986823
NM_001122764.3(PPOX):c.26G>A (p.Gly9Asp)
NM_001122764.3(PPOX):c.276A>T (p.Pro92=)
NM_001122764.3(PPOX):c.29G>A (p.Gly10Glu) rs1659114692
NM_001122764.3(PPOX):c.2T>C (p.Met1Thr) rs1571325144
NM_001122764.3(PPOX):c.306C>T (p.Gly102=)
NM_001122764.3(PPOX):c.31G>A (p.Gly11Ser) rs1571325591
NM_001122764.3(PPOX):c.31G>T (p.Gly11Cys) rs1571325591
NM_001122764.3(PPOX):c.322C>G (p.Leu108Val)
NM_001122764.3(PPOX):c.338+1G>A rs1245369612
NM_001122764.3(PPOX):c.338+2dup rs2101851488
NM_001122764.3(PPOX):c.338+98del rs397731347
NM_001122764.3(PPOX):c.361C>G (p.Pro121Ala)
NM_001122764.3(PPOX):c.366C>T (p.Phe122=)
NM_001122764.3(PPOX):c.367T>A (p.Ser123Thr) rs1064797018
NM_001122764.3(PPOX):c.384_397dup (p.Glu133delinsGlyLeuGlyTer) rs2101863458
NM_001122764.3(PPOX):c.38G>A (p.Ser13Asn) rs2101841884
NM_001122764.3(PPOX):c.397G>T (p.Glu133Ter) rs774663053
NM_001122764.3(PPOX):c.399G>A (p.Glu133=)
NM_001122764.3(PPOX):c.427G>A (p.Asp143Asn)
NM_001122764.3(PPOX):c.441C>G (p.His147Gln)
NM_001122764.3(PPOX):c.441_442del (p.His147fs)
NM_001122764.3(PPOX):c.454C>T (p.Arg152Cys) rs1571352321
NM_001122764.3(PPOX):c.455G>A (p.Arg152His)
NM_001122764.3(PPOX):c.471+10G>C
NM_001122764.3(PPOX):c.471+14A>G rs1243106058
NM_001122764.3(PPOX):c.488T>C (p.Met163Thr) rs1019141153
NM_001122764.3(PPOX):c.503G>T (p.Arg168Leu) rs41270025
NM_001122764.3(PPOX):c.527G>A (p.Arg176His)
NM_001122764.3(PPOX):c.528T>G (p.Arg176=)
NM_001122764.3(PPOX):c.538A>G (p.Ile180Val) rs1200338773
NM_001122764.3(PPOX):c.545C>A (p.Ser182Tyr) rs745879127
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545
NM_001122764.3(PPOX):c.616+15A>G
NM_001122764.3(PPOX):c.616G>C (p.Gly206Arg)
NM_001122764.3(PPOX):c.617-3C>A rs2101876167
NM_001122764.3(PPOX):c.660G>T (p.Leu220Phe) rs1571367836
NM_001122764.3(PPOX):c.667C>T (p.Arg223Cys)
NM_001122764.3(PPOX):c.668G>A (p.Arg223His)
NM_001122764.3(PPOX):c.67C>T (p.Arg23Trp)
NM_001122764.3(PPOX):c.684A>G (p.Ser228=)
NM_001122764.3(PPOX):c.68G>A (p.Arg23Gln)
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.702G>A (p.Glu234=) rs2101877570
NM_001122764.3(PPOX):c.708G>T (p.Leu236Phe) rs2101877634
NM_001122764.3(PPOX):c.712C>T (p.Gln238Ter)
NM_001122764.3(PPOX):c.719T>C (p.Leu240Pro)
NM_001122764.3(PPOX):c.741G>T (p.Arg247Ser) rs149049124
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.747C>G (p.Val249=)
NM_001122764.3(PPOX):c.761G>A (p.Gly254Asp)
NM_001122764.3(PPOX):c.781A>C (p.Ser261Arg)
NM_001122764.3(PPOX):c.784C>T (p.Leu262Phe)
NM_001122764.3(PPOX):c.78C>A (p.Cys26Ter) rs762280759
NM_001122764.3(PPOX):c.78C>T (p.Cys26=)
NM_001122764.3(PPOX):c.799C>T (p.Arg267Cys)
NM_001122764.3(PPOX):c.800G>A (p.Arg267His)
NM_001122764.3(PPOX):c.807+13C>G
NM_001122764.3(PPOX):c.807+2T>C rs1660225013
NM_001122764.3(PPOX):c.807G>A (p.Lys269=)
NM_001122764.3(PPOX):c.808-17T>C
NM_001122764.3(PPOX):c.808-1G>A rs2101886022
NM_001122764.3(PPOX):c.809T>C (p.Val270Ala)
NM_001122764.3(PPOX):c.82C>A (p.Pro28Thr)
NM_001122764.3(PPOX):c.82C>G (p.Pro28Ala)
NM_001122764.3(PPOX):c.83C>T (p.Pro28Leu) rs374585133
NM_001122764.3(PPOX):c.851G>T (p.Ser284Ile) rs2101886576
NM_001122764.3(PPOX):c.87+8C>A
NM_001122764.3(PPOX):c.88-18_88-15del
NM_001122764.3(PPOX):c.88-47C>G rs2301287
NM_001122764.3(PPOX):c.88-6C>T
NM_001122764.3(PPOX):c.8G>A (p.Arg3Gln) rs2101841312
NM_001122764.3(PPOX):c.910C>T (p.Arg304Cys)
NM_001122764.3(PPOX):c.916_917del (p.Leu306fs)
NM_001122764.3(PPOX):c.950T>C (p.Val317Ala)
NM_001122764.3(PPOX):c.968_970del (p.Gly323del) rs1352842271
NM_001122764.3(PPOX):c.972C>T (p.Ala324=)
NM_001122764.3(PPOX):c.97G>T (p.Val33Leu)
NM_001122764.3(PPOX):c.987+5G>T rs777244410
NM_001122764.3(PPOX):c.987+6A>T
NM_001122764.3(PPOX):c.987G>C (p.Gln329His) rs2101890627
NM_001122764.3(PPOX):c.988-3C>T
NM_001122764.3(PPOX):c.997C>T (p.His333Tyr) rs2101898031
NM_001350128.2(PPOX):c.354-415del rs2101862742

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.