ClinVar Miner

List of variants in gene UROD studied for hepatic porphyria

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084 0.08811
NM_000374.5(UROD):c.*3G>A rs74349352 0.00902
NM_000374.5(UROD):c.952G>A (p.Gly318Arg) rs116233118 0.00531
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115 0.00527
NM_000374.5(UROD):c.450G>A (p.Pro150=) rs2234479 0.00475
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_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_000374.4(UROD):c.-67G>A rs767012968 0.00002
NM_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 0.00001
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.561T>C (p.Ala187=) rs780519904 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 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_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000374.4(UROD):c.-57dup rs777548921
NM_000374.5(UROD):c.*70G>A rs41269105
NM_000374.5(UROD):c.101G>A (p.Trp34Ter)
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.186dup (p.Glu63Ter)
NM_000374.5(UROD):c.21-12C>T rs775210041
NM_000374.5(UROD):c.21-1G>C rs1644814606
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.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.578G>C (p.Arg193Pro) rs143823335
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.583_611del (p.Leu195fs) rs2148982945
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.725del (p.Lys242fs)
NM_000374.5(UROD):c.758dup (p.Ala254fs)
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.968A>G (p.Gln323Arg)
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.