List of variants in gene NBN reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758	0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs)	rs587781891	0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	rs730881857	0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)	rs786205135	0.00001
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.445del (p.His149fs)	rs1554567892
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)	rs1554564297
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs)	rs587780100
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)	rs864309670

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