List of variants reported as likely benign for Nijmegen breakage syndrome by Counsyl

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	rs34120922	0.00276
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	rs142334798	0.00044
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)	rs72550742	0.00030
NM_002485.5(NBN):c.1914+10G>A	rs577706448	0.00011
NM_002485.5(NBN):c.37+10G>C	rs369408590	0.00011
NM_002485.5(NBN):c.1124+37C>G	rs577575764	0.00002
NM_002485.5(NBN):c.2184+8G>C	rs730881842	0.00002
NM_002485.5(NBN):c.37+7G>A	rs372850559	0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)	rs543852763	0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=)	rs758276775	0.00001
NM_002485.5(NBN):c.172-529G>A	rs104895039
NM_002485.5(NBN):c.2235-12C>T	rs1554553904
NM_002485.5(NBN):c.480+10A>G	rs878854512
NM_002485.5(NBN):c.702+7A>G	rs864622602
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	rs61754967

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