List of variants in gene NBN reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.2070+2T>G	rs786203223	0.00001
NM_002485.5(NBN):c.2234+2T>G	rs142301194	0.00001
NM_002485.5(NBN):c.481-2A>T	rs751567476	0.00001
NM_002485.5(NBN):c.1051A>T (p.Lys351Ter)
NM_002485.5(NBN):c.171+1G>A	rs931715719
NM_002485.5(NBN):c.306del (p.Phe102fs)	rs587781305
NM_002485.5(NBN):c.676del (p.Thr226fs)	rs1563561558
NM_002485.5(NBN):c.93_94del (p.Ala32fs)	rs864622253

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