ClinVar Miner

List of variants in gene NBN reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_002485.4(NBN):c.-10A>T rs759094270
NM_002485.4(NBN):c.1008_1010delAAC (p.Thr337del) rs770500095
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1066G>A (p.Ala356Thr) rs777259845
NM_002485.4(NBN):c.1142delC (p.Pro381Glnfs) rs587781969
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1247T>C (p.Met416Thr) rs863224713
NM_002485.4(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1343A>T (p.Gln448Leu) rs146403088
NM_002485.4(NBN):c.1373A>G (p.Tyr458Cys) rs544909538
NM_002485.4(NBN):c.1398-10dupT rs587780555
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1729G>T (p.Asp577Tyr) rs587781881
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2070+2T>G rs786203223
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2139T>C (p.Ala713=) rs755274971
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2196A>G (p.Gln732=) rs587780780
NM_002485.4(NBN):c.2213C>T (p.Ser738Phe) rs876659097
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.2234+9T>G rs1446505128
NM_002485.4(NBN):c.2235-3C>T rs1554553897
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.426T>C (p.Asn142=) rs143070291
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.4(NBN):c.596C>G (p.Pro199Arg) rs730881844
NM_002485.4(NBN):c.613A>G (p.Ile205Val) rs730881845
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002485.4(NBN):c.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.698_701delAACA (p.Lys233Serfs) rs587780100
NM_002485.4(NBN):c.702+9G>A rs748373099
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002485.4(NBN):c.827C>G (p.Thr276Arg) rs864622304
NM_002485.4(NBN):c.829A>C (p.Asn277His)
NM_002485.4(NBN):c.968G>A (p.Cys323Tyr) rs730881848

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