List of variants in gene OTC reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	rs1800321	0.26575
NM_000531.6(OTC):c.299-8T>A	rs73196229	0.14689
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	rs1800328	0.02868
NM_000531.6(OTC):c.751T>C (p.Leu251=)	rs36005267	0.00722
NM_000531.6(OTC):c.429T>C (p.Tyr143=)	rs145777402	0.00317
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00069
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	rs137899554	0.00028
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	rs67939655	0.00011
NM_000531.6(OTC):c.621C>T (p.Ser207=)	rs72558415	0.00005
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	rs752916728	0.00004
NM_000531.6(OTC):c.270T>C (p.Ser90=)	rs72554342	0.00003
NM_000531.6(OTC):c.272C>T (p.Thr91Ile)	rs372906667	0.00002
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)	rs753712951	0.00002
NM_000531.6(OTC):c.409G>A (p.Ala137Thr)	rs72556258	0.00001
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)	rs756096405	0.00001
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)	rs148660170	0.00001
NM_000531.6(OTC):c.717+5G>A	rs747637190	0.00001
NM_000531.6(OTC):c.722G>A (p.Gly241Asp)	rs1461226043	0.00001
NM_000531.6(OTC):c.10A>C (p.Asn4His)
NM_000531.6(OTC):c.179C>G (p.Ser60Ter)	rs72554323
NM_000531.6(OTC):c.210A>G (p.Lys70=)	rs2519950783
NM_000531.6(OTC):c.298+2T>C	rs1555972538
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	rs72558416
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)	rs72558416
NM_000531.6(OTC):c.642C>A (p.His214Gln)	rs1602031079
NM_000531.6(OTC):c.682A>T (p.Ser228Cys)	rs2519978848
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	rs68031618
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del)	rs1555976710
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	rs72558473

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