ClinVar Miner

List of variants in gene LOC126860438, NBN studied for Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)	rs115321485	0.00466
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	rs587782545	0.00002
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)	rs1178384498

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