ClinVar Miner

Submissions for variant NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)

gnomAD frequency: 0.00001  dbSNP: rs57419521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007930 SCV000028135 pathogenic Beaded hair 1997-12-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056952 SCV000088065 not provided not provided no assertion provided not provided

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