ClinVar Miner

List of variants in gene P3H1 reported as pathogenic

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.1459C>T (p.Gln487Ter) rs1229143002 0.00002
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_022356.4(P3H1):c.1170+5G>C rs72659353 0.00001
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter) rs72659347 0.00001
NM_022356.4(P3H1):c.664C>T (p.Gln222Ter) rs1214987088 0.00001
NM_022356.4(P3H1):c.765C>A (p.Tyr255Ter) rs72659349 0.00001
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter) rs773269078 0.00001
NC_000001.10:g.(?_43218172)_(43218675_?)del
NM_022356.4(P3H1):c.1051G>T (p.Glu351Ter)
NM_022356.4(P3H1):c.105_120del (p.Asp36fs)
NM_022356.4(P3H1):c.1060A>T (p.Arg354Ter) rs1570472113
NM_022356.4(P3H1):c.1090G>T (p.Glu364Ter)
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter) rs118203996
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1171_1183del (p.Asp391fs)
NM_022356.4(P3H1):c.1205_1206del (p.Arg402fs)
NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter) rs1557569037
NM_022356.4(P3H1):c.1223+2T>C rs2124122351
NM_022356.4(P3H1):c.1223+2T>G
NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter) rs1652311421
NM_022356.4(P3H1):c.1242_1248del (p.Val415fs)
NM_022356.4(P3H1):c.1316C>G (p.Ser439Ter)
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
NM_022356.4(P3H1):c.1346-1G>A
NM_022356.4(P3H1):c.1346-1G>C rs886042897
NM_022356.4(P3H1):c.1351_1357del (p.Pro451fs)
NM_022356.4(P3H1):c.1365_1366delinsC (p.Glu455fs) rs137853952
NM_022356.4(P3H1):c.1367del (p.Gly456fs)
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.1408C>T (p.Gln470Ter) rs757634052
NM_022356.4(P3H1):c.1473+1G>T rs72659354
NM_022356.4(P3H1):c.1484_1485dup (p.Ser496fs)
NM_022356.4(P3H1):c.1499_1502dup (p.Gly502fs)
NM_022356.4(P3H1):c.1531G>T (p.Glu511Ter) rs773832238
NM_022356.4(P3H1):c.1569+1G>A rs369651701
NM_022356.4(P3H1):c.1593del (p.Leu532fs)
NM_022356.4(P3H1):c.1656C>A (p.Tyr552Ter) rs72659355
NM_022356.4(P3H1):c.1658del (p.Phe553fs)
NM_022356.4(P3H1):c.1839-2A>C rs755665899
NM_022356.4(P3H1):c.1852del (p.Tyr617_Leu618insTer) rs2124079876
NM_022356.4(P3H1):c.1856del (p.Asn619fs) rs1570454914
NM_022356.4(P3H1):c.1881_1882del (p.Phe627fs)
NM_022356.4(P3H1):c.1914+1G>A
NM_022356.4(P3H1):c.1918dup (p.Glu640fs)
NM_022356.4(P3H1):c.2014dup (p.Ile672fs)
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)
NM_022356.4(P3H1):c.2029dup (p.Thr677fs)
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2051_2054del (p.Glu684fs) rs2124076122
NM_022356.4(P3H1):c.2055+1G>A rs2124076040
NM_022356.4(P3H1):c.2099del (p.Pro700fs)
NM_022356.4(P3H1):c.2101_2102insT (p.Glu701fs) rs778110583
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407
NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter) rs2124072579
NM_022356.4(P3H1):c.2154del (p.Glu719fs)
NM_022356.4(P3H1):c.2154dup (p.Glu719fs) rs752671524
NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter)
NM_022356.4(P3H1):c.377del (p.Pro126fs) rs2124174456
NM_022356.4(P3H1):c.417del (p.Glu139fs)
NM_022356.4(P3H1):c.438C>A (p.Tyr146Ter)
NM_022356.4(P3H1):c.448C>T (p.Gln150Ter)
NM_022356.4(P3H1):c.541C>T (p.Gln181Ter) rs1570479611
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022356.4(P3H1):c.572del (p.Gly191fs)
NM_022356.4(P3H1):c.628C>T (p.Arg210Ter) rs137853950
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)
NM_022356.4(P3H1):c.646_650del (p.Tyr216fs) rs1553143142
NM_022356.4(P3H1):c.652G>T (p.Glu218Ter) rs2124142972
NM_022356.4(P3H1):c.655del (p.Glu219fs)
NM_022356.4(P3H1):c.739G>T (p.Glu247Ter)
NM_022356.4(P3H1):c.741del (p.Tyr250fs)
NM_022356.4(P3H1):c.747del (p.Tyr250fs) rs72659348
NM_022356.4(P3H1):c.791del (p.Leu264fs)
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021
NM_022356.4(P3H1):c.866del (p.His289fs)
NM_022356.4(P3H1):c.898del (p.Leu300fs)
NM_022356.4(P3H1):c.922C>T (p.Gln308Ter)
NM_022356.4(P3H1):c.927del (p.Phe309fs)
NM_022356.4(P3H1):c.933C>G (p.Tyr311Ter) rs72659350
NM_022356.4(P3H1):c.939_940del (p.Ile314fs)
NM_022356.4(P3H1):c.951T>A (p.Tyr317Ter)
NM_022356.4(P3H1):c.955C>T (p.Gln319Ter)
NM_022356.4(P3H1):c.95_99delinsA (p.Met32fs)

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