List of variants in gene FREM1 reported as pathogenic for BNAR syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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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.2T>C (p.Met1Thr)	rs1464587064
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser)	rs121912610
NM_001379081.2(FREM1):c.870_876del (p.Pro291fs)	rs2538704291

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