ClinVar Miner

Submissions for variant NM_017545.3(HAO1):c.545+1171T>C

gnomAD frequency: 0.21516  dbSNP: rs2423326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University RCV000128601 SCV000147960 association Calcium oxalate urolithiasis 2014-03-01 no assertion criteria provided case-control

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