List of variants in gene UROD reported as pathogenic for digestive system disorder

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000374.5(UROD):c.636+1G>C	rs145195562	0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val)	rs121918057	0.00003
NM_000374.5(UROD):c.346C>T (p.Gln116Ter)	rs397514765	0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg)	rs121918063	0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	rs771824413	0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys)	rs121918065	0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)	rs121918061	0.00001
NM_000374.5(UROD):c.185C>T (p.Pro62Leu)	rs121918060
NM_000374.5(UROD):c.21-1G>C	rs1644814606
NM_000374.5(UROD):c.499G>A (p.Glu167Lys)	rs121918058
NM_000374.5(UROD):c.583C>T (p.Leu195Phe)	rs121918064
NM_000374.5(UROD):c.842G>A (p.Gly281Glu)	rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly)	rs121918059
NM_000374.5(UROD):c.904C>T (p.Gln302Ter)	rs1569967143
NM_000374.5(UROD):c.942G>A (p.Glu314=)	rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His)	rs121918066

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