ClinVar Miner

List of variants in gene PPOX reported as pathogenic for not provided

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
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.503G>A (p.Arg168His) rs41270025 0.00001
NM_001122764.3(PPOX):c.565C>T (p.Gln189Ter) rs956668146 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.1042dup (p.Tyr348fs) rs2101898546
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)
NM_001122764.3(PPOX):c.1092_1093del (p.Arg364fs) rs1571406458
NM_001122764.3(PPOX):c.1147_1148del (p.Val383fs) rs2101901339
NM_001122764.3(PPOX):c.1280G>A (p.Trp427Ter) rs1485065423
NM_001122764.3(PPOX):c.1287del (p.Lys429fs)
NM_001122764.3(PPOX):c.1289dup (p.Glu431fs)
NM_001122764.3(PPOX):c.1325T>A (p.Leu442Ter)
NM_001122764.3(PPOX):c.133del (p.Ser45fs) rs2101846610
NM_001122764.3(PPOX):c.139C>T (p.Arg47Ter) rs1659274238
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.2T>C (p.Met1Thr) rs1571325144
NM_001122764.3(PPOX):c.338+1G>A rs1245369612
NM_001122764.3(PPOX):c.384_397dup (p.Glu133delinsGlyLeuGlyTer) rs2101863458
NM_001122764.3(PPOX):c.397G>T (p.Glu133Ter) rs774663053
NM_001122764.3(PPOX):c.441_442del (p.His147fs)
NM_001122764.3(PPOX):c.454C>T (p.Arg152Cys) rs1571352321
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.712C>T (p.Gln238Ter)
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.78C>A (p.Cys26Ter) rs762280759
NM_001122764.3(PPOX):c.808-1G>A rs2101886022
NM_001122764.3(PPOX):c.916_917del (p.Leu306fs)
NM_001350128.2(PPOX):c.354-415del rs2101862742

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