ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) (rs137852500)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010779 SCV000031006 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1991-10-01 no assertion criteria provided literature only
OMIM RCV000010780 SCV000031007 other HPRT TOOWONG 2011-05-12 no assertion criteria provided literature only

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