ClinVar Miner

List of variants in gene OTC reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000531.5(OTC):c.-142G>A rs1555971000
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>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.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.299-2A>G rs2147330536
NM_000531.6(OTC):c.350A>C (p.His117Pro)
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.419C>T (p.Ala140Val) rs2147341270
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.505C>G (p.Pro169Ala) rs72556277
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.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.588T>A (p.Asp196Glu) rs2068501518
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.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.622G>T (p.Ala208Ser)
NM_000531.6(OTC):c.629A>C (p.Lys210Thr) rs2068502349
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
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.717G>A (p.Glu239=) rs66851495
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.78-1G>T rs281865554
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del) rs2147345212
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.904C>G (p.His302Asp) rs72558463
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474

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