ClinVar Miner

Submissions for variant NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu)

gnomAD frequency: 0.00001  dbSNP: rs387907156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024254 SCV000045545 pathogenic Pseudohypoaldosteronism type 2D 2012-03-11 no assertion criteria provided literature only

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