ClinVar Miner

List of variants in gene UROD reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.346C>T (p.Gln116Ter) rs397514765
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063
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.636+1G>C rs145195562
NM_000374.5(UROD):c.6_15del (p.Glu2fs) rs397514764
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066

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