ClinVar Miner

Submissions for variant NM_001064.4(TKT):c.952C>T (p.Arg318Cys)

gnomAD frequency: 0.00004  dbSNP: rs782092363
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000235885 SCV000292441 pathogenic Transketolase deficiency 2016-07-20 no assertion criteria provided literature only

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