ClinVar Miner

List of variants in gene UROD studied for Familial porphyria cutanea tarda

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Total variants: 41
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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_000374.5(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_000374.5(UROD):c.390G>T (p.Glu130Asp) rs138585833 0.00020
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_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 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.*70G>A rs41269105
NM_000374.5(UROD):c.101G>A (p.Trp34Ter)
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.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.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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