List of variants in gene NBN reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.*504A>G	rs3780123	0.00044
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)	rs587780093	0.00001
NM_002485.5(NBN):c.1465C>T (p.Leu489Phe)	rs143948240
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)	rs730881841
NM_002485.5(NBN):c.515T>C (p.Val172Ala)	rs1554566701

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