ClinVar Miner

List of variants reported as benign for Borjeson-Forssman-Lehmann syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):

Borjeson-Forssman-Lehmann syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)	rs112199174	0.00753
NM_001015877.2(PHF6):c.729+4A>G	rs188961105	0.00691
NM_001015877.2(PHF6):c.374+8T>C	rs142596708	0.00360

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