ClinVar Miner

Submissions for variant NM_006488.3(KHK):c.127G>A (p.Ala43Thr)

gnomAD frequency: 0.00010  dbSNP: rs104893644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012812 SCV000033052 pathogenic Essential fructosuria 1994-09-01 no assertion criteria provided literature only

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