List of variants in gene combination LOC126860438, NBN reported as likely pathogenic for Microcephaly, normal intelligence and immunodeficiency

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	rs587782545	0.00002
NC_000008.10:g.(?_90955471)_(90983528_?)dup
NM_002485.5(NBN):c.1846-1G>A	rs61753717
NM_002485.5(NBN):c.1846-1G>T	rs61753717
NM_002485.5(NBN):c.1846-726_1895del
NM_002485.5(NBN):c.1848del (p.Glu617fs)	rs1057516611
NM_002485.5(NBN):c.1896del (p.Trp632fs)
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)	rs1563516254
NM_002485.5(NBN):c.1911_1914+1del	rs1554556880
NM_002485.5(NBN):c.1914+1G>T
NM_002485.5(NBN):c.1914+2T>G	rs2129659522
NM_002485.5(NBN):c.1914+2_1914+3del	rs1586043528

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