List of variants in gene NBN reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.1197T>C (p.Asp399=)	rs709816	0.51063
NM_002485.5(NBN):c.553G>C (p.Glu185Gln)	rs1805794	0.30329
NM_002485.5(NBN):c.1124+18C>T	rs2234744	0.30095
NM_002485.5(NBN):c.37+5G>A	rs116735828	0.00767
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	rs34120922	0.00276
NM_002485.5(NBN):c.381T>C (p.Ala127=)	rs61754795	0.00266
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	rs61753720	0.00188
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)	rs28538230	0.00114
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	rs141137543	0.00075
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)	rs146403088	0.00016
NM_002485.5(NBN):c.38-10T>A	rs556807466	0.00015
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)	rs192236678	0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile)	rs201816949	0.00014
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	rs200297914	0.00011
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	rs121908974	0.00004
NM_002485.5(NBN):c.120G>T (p.Ser40=)	rs774989816	0.00002
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp)	rs587782409	0.00001
NM_002485.5(NBN):c.432A>G (p.Thr144=)	rs886043003	0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)	rs730881844	0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val)	rs730881862	0.00001
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys)	rs587782130
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly)	rs921235584
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)	rs730881841
NM_002485.5(NBN):c.458T>C (p.Val153Ala)	rs1554567865

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