ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.-203T>C

gnomAD frequency: 0.00001  dbSNP: rs1554891988
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003960 SCV000024125 pathogenic Cutaneous porphyria 2001-03-01 no assertion criteria provided literature only
GeneReviews RCV000003960 SCV000086646 not provided Cutaneous porphyria no assertion provided literature only Pathogenic variants in the erythroid-specific promoter region 2

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