ClinVar Miner

List of variants in gene NBN reported by Mendelics

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
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.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
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.1198G>A (p.Ala400Thr) rs551602980 0.00006
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.120G>T (p.Ser40=) rs774989816 0.00002
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.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.167A>G (p.Asn56Ser) rs1554569009
NM_002485.5(NBN):c.179C>A (p.Thr60Lys) rs1586109164
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys) rs1810522468
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) rs1563513091
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.320+40G>T rs749797574
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.584+7T>A rs1057523869
NM_002485.5(NBN):c.585-10A>G rs2129840066
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.702+1del rs1586088347
NM_002485.5(NBN):c.806G>C (p.Cys269Ser) rs768822147
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.860A>G (p.Lys287Arg) rs2129827781
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435

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