List of variants in gene NBN reported as not provided for autosomal recessive disease

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)	rs587781333	0.00004
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	rs730881857	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	rs121908974
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)	rs1057519588
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)	rs377730553
NM_002485.5(NBN):c.149C>T (p.Ala50Val)	rs1554569035
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)	rs1283330641
NM_002485.5(NBN):c.1769del (p.Arg590fs)	rs1563525004
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)	rs1057519585
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del)	rs1811866878
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_002485.5(NBN):c.681del (p.Phe227fs)	rs1057519586
NM_002485.5(NBN):c.698_701del (p.Lys233fs)	rs587780100
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)	rs864309670
NM_002485.5(NBN):c.836_839del (p.Gln279fs)	rs864309668
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)	rs121908973

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