ClinVar Miner

List of variants studied for BNAR syndrome by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) rs121912609 0.00001
NC_000009.12:g.(?_14762351)_(14792870_?)del
NM_001379081.2(FREM1):c.2722del (p.Val908fs) rs1588131370
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610

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