ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) (rs137852478)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010714 SCV000030940 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1989-07-01 no assertion criteria provided literature only
OMIM RCV000010715 SCV000030941 other HPRT ARLINGTON 2017-09-26 no assertion criteria provided literature only

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