ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) (rs137852484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010736 SCV000030962 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1989-07-01 no assertion criteria provided literature only
OMIM RCV000010737 SCV000030963 other HPRT MILWAUKEE 2020-09-10 no assertion criteria provided literature only

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