ClinVar Miner

List of variants in gene OTC reported as likely pathogenic

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
GRCh37/hg19 Xp11.4(chrX:38280275-38280335)x1
NM_000531.5(OTC):c.-106C>A rs749748052
NM_000531.5(OTC):c.-115C>T rs1555971008
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.5(OTC):c.-139A>G rs1555971001
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-157T>G rs1555970997
NM_000531.6(OTC):c.1006-2A>G
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg) rs72558491
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly) rs2147349974
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)
NM_000531.6(OTC):c.140_141insG (p.Asn47fs) rs72554314
NM_000531.6(OTC):c.143_144del (p.Phe48fs) rs2068301848
NM_000531.6(OTC):c.156A>T (p.Glu52Asp) rs72554318
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.179C>A (p.Ser60Ter)
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) rs1555972495
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.261_262del (p.Arg89fs)
NM_000531.6(OTC):c.262A>T (p.Lys88Ter)
NM_000531.6(OTC):c.298+2T>C
NM_000531.6(OTC):c.299-2A>G rs2147330536
NM_000531.6(OTC):c.350A>C (p.His117Pro)
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) rs72554355
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) rs1131691517
NM_000531.6(OTC):c.376G>A (p.Asp126Asn)
NM_000531.6(OTC):c.403G>C (p.Ala135Pro) rs770910923
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.419C>T (p.Ala140Val) rs2147341270
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.443T>C (p.Leu148Ser) rs67016166
NM_000531.6(OTC):c.477T>G (p.Ile159Met)
NM_000531.6(OTC):c.478A>T (p.Ile160Phe) rs2147341364
NM_000531.6(OTC):c.480C>G (p.Ile160Met)
NM_000531.6(OTC):c.485G>C (p.Gly162Ala) rs72556272
NM_000531.6(OTC):c.485G>T (p.Gly162Val) rs72556272
NM_000531.6(OTC):c.488T>A (p.Leu163Gln) rs2068486155
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.494A>G (p.Asp165Gly) rs1555975685
NM_000531.6(OTC):c.502C>T (p.His168Tyr)
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.50_53del (p.Gly17fs)
NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)
NM_000531.6(OTC):c.535C>G (p.Leu179Val) rs2068487136
NM_000531.6(OTC):c.539A>C (p.Gln180Pro) rs2147341500
NM_000531.6(OTC):c.562G>A (p.Gly188Ser) rs72556294
NM_000531.6(OTC):c.563G>C (p.Gly188Ala)
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.588T>A (p.Asp196Glu) rs2068501518
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.602T>C (p.Leu201Pro) rs72558407
NM_000531.6(OTC):c.604C>G (p.His202Asp) rs72558408
NM_000531.6(OTC):c.607T>C (p.Ser203Pro)
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.614T>A (p.Met205Lys) rs2068501940
NM_000531.6(OTC):c.617T>A (p.Met206Lys) rs72558412
NM_000531.6(OTC):c.618G>T (p.Met206Ile)
NM_000531.6(OTC):c.621C>A (p.Ser207Arg) rs72558415
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
NM_000531.6(OTC):c.629A>C (p.Lys210Thr) rs2068502349
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
NM_000531.6(OTC):c.659C>T (p.Pro220Leu) rs72558426
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) rs72558428
NM_000531.6(OTC):c.674C>A (p.Pro225Gln) rs67120076
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs) rs1602033095
NM_000531.6(OTC):c.717G>A (p.Glu239=) rs66851495
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)
NM_000531.6(OTC):c.731T>C (p.Leu244Pro) rs72558436
NM_000531.6(OTC):c.758C>A (p.Ala253Glu) rs2147345110
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.77G>T (p.Arg26Leu) rs68031618
NM_000531.6(OTC):c.78-1G>T rs281865554
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) rs72558443
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del) rs2147345212
NM_000531.6(OTC):c.814G>T (p.Glu272Ter)
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.826A>T (p.Lys276Ter)
NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro)
NM_000531.6(OTC):c.844del (p.Gln282fs) rs2068530290
NM_000531.6(OTC):c.860_861dup (p.Met288fs) rs2068530385
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.868-2A>T rs1064796335
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.904C>G (p.His302Asp) rs72558463
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_000531.6(OTC):c.962C>T (p.Ser321Leu)
NM_000531.6(OTC):c.970_979del (p.Phe324fs) rs2147346607
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478

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