List of variants in gene OTC reported as uncertain significance for Ornithine carbamoyltransferase deficiency

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

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	rs1800328	0.02868
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00058
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	rs137899554	0.00028
NM_000531.6(OTC):c.*175T>C	rs752290309	0.00014
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)	rs199858968	0.00013
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	rs67939655	0.00011
NM_000531.6(OTC):c.127C>A (p.Leu43Ile)	rs72554309	0.00010
NM_000531.6(OTC):c.*105C>T	rs1036076773	0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)	rs140046498	0.00009
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)	rs72558417	0.00009
NM_000531.6(OTC):c.1005+11A>T	rs375524303	0.00005
NM_000531.6(OTC):c.*276A>G	rs1016109235	0.00003
NM_000531.6(OTC):c.216+9C>T	rs774764719	0.00002
NM_000531.6(OTC):c.272C>T (p.Thr91Ile)	rs372906667	0.00002
NM_000531.6(OTC):c.761C>T (p.Ala254Val)	rs781179862	0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	rs1057515879	0.00002
NM_000531.6(OTC):c.808C>G (p.Gln270Glu)	rs72558451	0.00002
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)	rs753712951	0.00002
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)	rs184053962	0.00001
NM_000531.6(OTC):c.368G>A (p.Ser123Asn)	rs776830576	0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met)	rs72554356	0.00001
NM_000531.6(OTC):c.401T>C (p.Met134Thr)	rs1380616457	0.00001
NM_000531.6(OTC):c.493G>C (p.Asp165His)	rs72556275	0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr)	rs72556281	0.00001
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)	rs148660170	0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg)	rs2068530349	0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)	rs756772340	0.00001
NC_000023.11:g.(?_38352331)_(38352793_?)dup
NM_000531.5(OTC):c.-116C>T	rs1555971006
NM_000531.6(OTC):c.1005G>A (p.Met335Ile)	rs281865553
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)	rs72558487
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)	rs2068592611
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)	rs2068592679
NM_000531.6(OTC):c.1031A>T (p.Asp344Val)
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)	rs66469337
NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	rs1602014500
NM_000531.6(OTC):c.125T>A (p.Leu42His)
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
NM_000531.6(OTC):c.139A>C (p.Asn47His)
NM_000531.6(OTC):c.145A>C (p.Thr49Pro)	rs72554316
NM_000531.6(OTC):c.145A>T (p.Thr49Ser)
NM_000531.6(OTC):c.146C>T (p.Thr49Ile)
NM_000531.6(OTC):c.188T>C (p.Leu63Pro)	rs72554324
NM_000531.6(OTC):c.216+10A>G	rs1473033144
NM_000531.6(OTC):c.216+5G>A
NM_000531.6(OTC):c.241T>C (p.Ser81Pro)	rs2147324956
NM_000531.6(OTC):c.242C>T (p.Ser81Phe)	rs2068314927
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)	rs2068315148
NM_000531.6(OTC):c.292G>A (p.Glu98Lys)	rs72554347
NM_000531.6(OTC):c.298+2dup	rs1555972540
NM_000531.6(OTC):c.298+3_298+6del	rs2068315608
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)	rs779154479
NM_000531.6(OTC):c.311T>A (p.Leu104Gln)
NM_000531.6(OTC):c.323C>G (p.Pro108Arg)
NM_000531.6(OTC):c.32A>G (p.Asn11Ser)
NM_000531.6(OTC):c.344A>G (p.Asp115Gly)
NM_000531.6(OTC):c.369T>A (p.Ser123Arg)
NM_000531.6(OTC):c.370C>T (p.Leu124Phe)
NM_000531.6(OTC):c.386+9A>G
NM_000531.6(OTC):c.387T>C (p.Arg129=)
NM_000531.6(OTC):c.425T>G (p.Val142Gly)	rs72556261
NM_000531.6(OTC):c.433C>A (p.Gln145Lys)	rs753584565
NM_000531.6(OTC):c.439G>C (p.Asp147His)
NM_000531.6(OTC):c.452T>C (p.Leu151Pro)	rs72556265
NM_000531.6(OTC):c.452T>G (p.Leu151Arg)	rs72556265
NM_000531.6(OTC):c.473C>G (p.Pro158Arg)	rs2068485732
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)	rs1555975685
NM_000531.6(OTC):c.512A>G (p.Gln171Arg)
NM_000531.6(OTC):c.523G>A (p.Asp175Asn)	rs2068486828
NM_000531.6(OTC):c.529C>T (p.Leu177Phe)
NM_000531.6(OTC):c.52C>A (p.His18Asn)
NM_000531.6(OTC):c.530T>C (p.Leu177Pro)	rs2068487036
NM_000531.6(OTC):c.530T>G (p.Leu177Arg)	rs2068487036
NM_000531.6(OTC):c.540+5G>C
NM_000531.6(OTC):c.541-12C>A	rs2068500853
NM_000531.6(OTC):c.54C>A (p.His18Gln)	rs2147315516
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	rs72558410
NM_000531.6(OTC):c.614T>G (p.Met205Arg)
NM_000531.6(OTC):c.641A>G (p.His214Arg)
NM_000531.6(OTC):c.642C>A (p.His214Gln)
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)
NM_000531.6(OTC):c.689C>A (p.Thr230Asn)
NM_000531.6(OTC):c.701A>G (p.Glu234Gly)
NM_000531.6(OTC):c.77+5G>A	rs72552302
NM_000531.6(OTC):c.774T>A (p.Asn258Lys)	rs777282515
NM_000531.6(OTC):c.774T>G (p.Asn258Lys)
NM_000531.6(OTC):c.800G>T (p.Ser267Ile)
NM_000531.6(OTC):c.811G>C (p.Glu271Gln)
NM_000531.6(OTC):c.814G>A (p.Glu272Lys)	rs2068530106
NM_000531.6(OTC):c.845A>G (p.Gln282Arg)	rs2068530314
NM_000531.6(OTC):c.862A>G (p.Met288Val)
NM_000531.6(OTC):c.867G>A (p.Lys289=)	rs72558456
NM_000531.6(OTC):c.889G>A (p.Asp297Asn)	rs2068544820
NM_000531.6(OTC):c.88C>T (p.Pro30Ser)
NM_000531.6(OTC):c.908G>T (p.Cys303Phe)
NM_000531.6(OTC):c.916A>G (p.Arg306Gly)	rs2147346548
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)	rs796052013
NM_000531.6(OTC):c.92T>C (p.Leu31Pro)
NM_000531.6(OTC):c.931G>A (p.Val311Met)	rs72558468
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del)	rs1555976710
NM_000531.6(OTC):c.959G>A (p.Arg320Gln)	rs72558474
NM_000531.6(OTC):c.974C>T (p.Pro325Leu)	rs1602034625
NM_000531.6(OTC):c.976G>A (p.Glu326Lys)	rs72558476

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