List of variants in gene NBN reported as uncertain significance by Mendelics

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	rs61754796	0.00047
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	rs104895032	0.00027
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)	rs148205441	0.00025
NM_002485.5(NBN):c.38-10T>A	rs556807466	0.00015
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	rs747315554	0.00014
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)	rs199845467	0.00008
NM_002485.5(NBN):c.803C>T (p.Thr268Met)	rs535602436	0.00004
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)	rs186371605	0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)	rs370058152	0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val)	rs755171159	0.00003
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)	rs587782330	0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)	rs730881856	0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)	rs753812768	0.00002
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)	rs587781530	0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)	rs776900339	0.00001
NM_002485.5(NBN):c.171+4T>C	rs587782290	0.00001
NM_002485.5(NBN):c.2129C>T (p.Ala710Val)	rs1060503454	0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)	rs587780093	0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)	rs730881844	0.00001
NM_002485.5(NBN):c.1036G>C (p.Val346Leu)	rs200297914
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)	rs1563538728
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)	rs1185542329
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)	rs755805461
NM_002485.5(NBN):c.167A>G (p.Asn56Ser)	rs1554569009
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys)	rs1810522468
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)	rs730881864
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)	rs1554555764
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)	rs747315554
NM_002485.5(NBN):c.37+2dup	rs876658183
NM_002485.5(NBN):c.442A>G (p.Thr148Ala)	rs1060503479
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)	rs1563574056
NM_002485.5(NBN):c.806G>C (p.Cys269Ser)	rs768822147
NM_002485.5(NBN):c.860A>G (p.Lys287Arg)	rs2129827781
NM_002485.5(NBN):c.958A>G (p.Lys320Glu)	rs1563548624
NM_002485.5(NBN):c.97A>G (p.Ile33Val)	rs1563584435

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