ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)

dbSNP: rs121908249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014566 SCV000034820 pathogenic Hypophosphatemic rickets, autosomal recessive, 2 2010-02-12 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000014566 SCV000091171 not provided Hypophosphatemic rickets, autosomal recessive, 2 no assertion provided not provided

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