List of variants in gene NBN reported as pathogenic for not provided

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002485.5(NBN):c.37+1G>A	rs574673404	0.00002
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.105_135del (p.Ile35fs)	rs730881840
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)	rs1554559323
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)	rs1238152597
NM_002485.5(NBN):c.1342C>T (p.Gln448Ter)	rs2129717874
NM_002485.5(NBN):c.1397+1del	rs1060503467
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	rs764884516
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.1635_1636del (p.Arg546fs)	rs1563526063
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs)	rs766044684
NM_002485.5(NBN):c.306del (p.Phe102fs)	rs587781305
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)	rs1057519585
NM_002485.5(NBN):c.445del (p.His149fs)	rs1554567892
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs)	rs587780100
NM_002485.5(NBN):c.808_809del (p.Val270fs)	rs786202490
NM_002485.5(NBN):c.995-2A>G	rs876659521

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