List of variants reported as pathogenic for Ornithine carbamoyltransferase deficiency by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 100

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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.540+1G>A	rs72556288	0.00001
NC_000023.10:g.(?_30326313)_(41000684_?)del
NC_000023.10:g.(?_37545215)_(38280335_?)del
NC_000023.10:g.(?_38128879)_(38280335_?)del
NC_000023.10:g.(?_38210736)_(38281703_?)del
NC_000023.10:g.(?_38211793)_(38212046_?)del
NC_000023.10:g.(?_38229029)_(38229150_?)del
NC_000023.10:g.(?_38240585)_(38272343_?)del
NC_000023.10:g.(?_38262851)_(38263013_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)del
NC_000023.11:g.(?_38367271)_(38367449_?)del
NC_000023.11:g.(?_38381322)_(38413090_?)del
NC_000023.11:g.(?_38401255)_(38401693_?)del
NM_000531.5(OTC):c.-106C>A	rs749748052
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)	rs1569282905
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)	rs2068592611
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)	rs66469337
NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	rs1602014500
NM_000531.6(OTC):c.119G>A (p.Arg40His)	rs72554308
NM_000531.6(OTC):c.140A>T (p.Asn47Ile)	rs67939655
NM_000531.6(OTC):c.154G>A (p.Glu52Lys)	rs66521141
NM_000531.6(OTC):c.154G>T (p.Glu52Ter)	rs66521141
NM_000531.6(OTC):c.177dup (p.Ser60fs)	rs2068302240
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)	rs72554326
NM_000531.6(OTC):c.216+1G>A	rs66693137
NM_000531.6(OTC):c.231G>T (p.Leu77Phe)	rs72554329
NM_000531.6(OTC):c.274C>T (p.Arg92Ter)	rs67418243
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)	rs66550389
NM_000531.6(OTC):c.298+1G>A	rs68058881
NM_000531.6(OTC):c.298+2T>G	rs1555972538
NM_000531.6(OTC):c.2T>C (p.Met1Thr)	rs72552295
NM_000531.6(OTC):c.303del (p.Phe101fs)	rs1400669703
NM_000531.6(OTC):c.386G>A (p.Arg129His)	rs66656800
NM_000531.6(OTC):c.387-2A>T	rs66556380
NM_000531.6(OTC):c.395C>A (p.Ser132Tyr)	rs72556254
NM_000531.6(OTC):c.3G>A (p.Met1Ile)	rs72552296
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)	rs72556259
NM_000531.6(OTC):c.421C>T (p.Arg141Ter)	rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)	rs68026851
NM_000531.6(OTC):c.429T>A (p.Tyr143Ter)	rs145777402
NM_000531.6(OTC):c.451del (p.Leu151fs)	rs72556264
NM_000531.6(OTC):c.460G>T (p.Glu154Ter)	rs72556267
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)	rs72556271
NM_000531.6(OTC):c.484G>C (p.Gly162Arg)	rs66626662
NM_000531.6(OTC):c.503A>G (p.His168Arg)	rs66867430
NM_000531.6(OTC):c.505C>T (p.Pro169Ser)	rs72556277
NM_000531.6(OTC):c.533C>T (p.Thr178Met)	rs72556284
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)	rs2068487136
NM_000531.6(OTC):c.540+1G>C	rs72556288
NM_000531.6(OTC):c.540+1G>T	rs72556288
NM_000531.6(OTC):c.540+265G>A	rs1555975756
NM_000531.6(OTC):c.540G>C (p.Gln180His)	rs72556287
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)	rs72556293
NM_000531.6(OTC):c.568dup (p.Thr190fs)	rs2068501144
NM_000531.6(OTC):c.579G>T (p.Trp193Cys)	rs2147342649
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)	rs67294955
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)	rs72556301
NM_000531.6(OTC):c.593A>G (p.Asn198Ser)	rs72558403
NM_000531.6(OTC):c.609del (p.Ile204fs)
NM_000531.6(OTC):c.614T>C (p.Met205Thr)	rs2068501940
NM_000531.6(OTC):c.617T>G (p.Met206Arg)	rs72558412
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	rs72558416
NM_000531.6(OTC):c.626C>A (p.Ala209Glu)	rs72558417
NM_000531.6(OTC):c.626C>T (p.Ala209Val)	rs72558417
NM_000531.6(OTC):c.652G>C (p.Ala218Pro)	rs2068502738
NM_000531.6(OTC):c.653_663del (p.Ala218fs)	rs2147342791
NM_000531.6(OTC):c.663+1G>T	rs68170503
NM_000531.6(OTC):c.663+2T>C	rs72558427
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	rs67120076
NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	rs72552300
NM_000531.6(OTC):c.714dup (p.Glu239fs)
NM_000531.6(OTC):c.717+1G>A	rs66500027
NM_000531.6(OTC):c.717+3A>G	rs72558432
NM_000531.6(OTC):c.749dup (p.Leu251fs)	rs2068529327
NM_000531.6(OTC):c.77+1G>A	rs67077695
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	rs68031618
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)	rs2068529696
NM_000531.6(OTC):c.790A>G (p.Thr264Ala)	rs72558444
NM_000531.6(OTC):c.803T>C (p.Met268Thr)	rs72558449
NM_000531.6(OTC):c.806G>A (p.Gly269Glu)	rs72558450
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	rs72558452
NM_000531.6(OTC):c.822del (p.Lys276fs)	rs2147345229
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)	rs72558454
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)	rs66724222
NM_000531.6(OTC):c.848del (p.Gly283fs)
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	rs72558462
NM_000531.6(OTC):c.907T>G (p.Cys303Gly)	rs67468335
NM_000531.6(OTC):c.912G>T (p.Leu304Phe)	rs72558465
NM_000531.6(OTC):c.914C>G (p.Pro305Arg)	rs67501347
NM_000531.6(OTC):c.926AAG[1] (p.Glu310del)	rs2068545306
NM_000531.6(OTC):c.929A>T (p.Glu310Val)
NM_000531.6(OTC):c.944T>A (p.Val315Asp)	rs67414444
NM_000531.6(OTC):c.944T>G (p.Val315Gly)	rs67414444
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	rs72558473
NM_000531.6(OTC):c.959G>C (p.Arg320Pro)	rs72558474
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	rs72558478

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