List of variants in gene NBN reported as pathogenic for Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia

Minimum submission review status:		Collection method:
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: 7

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.1397+1del	rs1060503467
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	rs864622143
NM_002485.5(NBN):c.317dup (p.Arg107fs)	rs745355767
NM_002485.5(NBN):c.698_701del (p.Lys233fs)	rs587780100

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