ClinVar Miner

Submissions for variant NM_001102416.3(KNG1):c.1493del (p.Lys498fs)

dbSNP: rs797044429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000603 SCV000020753 affects High molecular weight kininogen deficiency 2003-06-01 no assertion criteria provided literature only

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