List of variants in gene UROD reported as uncertain significance for hepatic porphyria

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000374.5(UROD):c.758T>A (p.Leu253Gln)	rs36033115	0.00527
NM_000374.4(UROD):c.-52C>A	rs41269103	0.00136
NM_000374.5(UROD):c.474+15G>C	rs369108963	0.00076
NM_000374.5(UROD):c.442C>T (p.Arg148Cys)	rs147374926	0.00032
NM_000374.5(UROD):c.774+12G>A	rs186269864	0.00027
NM_000374.4(UROD):c.*80A>G	rs144315045	0.00021
NM_000374.5(UROD):c.390G>T (p.Glu130Asp)	rs138585833	0.00020
NM_000374.4(UROD):c.-51T>C	rs370067756	0.00016
NM_000374.5(UROD):c.158A>G (p.Gln53Arg)	rs199597323	0.00010
NM_000374.5(UROD):c.745C>T (p.Arg249Trp)	rs137978913	0.00010
NM_000374.5(UROD):c.*45C>T	rs371078664	0.00006
NM_000374.5(UROD):c.27G>C (p.Gln9His)	rs150027651	0.00006
NM_000374.5(UROD):c.578G>A (p.Arg193His)	rs143823335	0.00004
NM_000374.4(UROD):c.-67G>A	rs767012968	0.00002
NM_000374.5(UROD):c.561T>C (p.Ala187=)	rs780519904	0.00001
NM_000374.5(UROD):c.679C>G (p.Gln227Glu)	rs546150911	0.00001
NM_000374.5(UROD):c.738C>T (p.Ala246=)	rs757178659	0.00001
NM_000374.4(UROD):c.-57dup	rs777548921
NM_000374.5(UROD):c.*70G>A	rs41269105
NM_000374.5(UROD):c.21-12C>T	rs775210041
NM_000374.5(UROD):c.240T>G (p.Ala80=)	rs1644820833
NM_000374.5(UROD):c.383C>A (p.Ala128Asp)	rs141792226
NM_000374.5(UROD):c.463G>A (p.Ala155Thr)	rs1457521997
NM_000374.5(UROD):c.693G>A (p.Lys231=)	rs143180539
NM_000374.5(UROD):c.70T>G (p.Trp24Gly)	rs11541966
NM_000374.5(UROD):c.995G>A (p.Arg332His)	rs121918066

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