List of variants in gene UROC1 studied for amino acid metabolism disease

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_144639.3(UROC1):c.1146-33A>G	rs13072404	0.52291
NM_144639.3(UROC1):c.1845C>T (p.Ala615=)	rs1687477	0.42399
NM_144639.3(UROC1):c.132G>A (p.Ala44=)	rs146351941	0.00710
NM_144639.3(UROC1):c.562C>T (p.Arg188Trp)	rs34488036	0.00558
NM_144639.3(UROC1):c.40C>T (p.Arg14Trp)	rs147828466	0.00100
NM_144639.3(UROC1):c.59G>A (p.Arg20Gln)	rs184621973	0.00083
NM_144639.3(UROC1):c.854G>A (p.Trp285Ter)	rs202232611	0.00041
NM_144639.3(UROC1):c.903-29G>A	rs752566871	0.00013
NM_144639.3(UROC1):c.1348C>T (p.Arg450Cys)	rs137852795	0.00006
NM_144639.3(UROC1):c.209T>C (p.Leu70Pro)	rs137852796	0.00004
NM_144639.3(UROC1):c.855G>A (p.Trp285Ter)	rs781621925	0.00001
NM_144639.3(UROC1):c.1448_1449del (p.Ser483fs)	rs1935770465
NM_144639.3(UROC1):c.351+18C>T	rs729456
NM_144639.3(UROC1):c.640G>A (p.Gly214Ser)	rs751617501

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