ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
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.441C>T (p.Cys147=) rs137857529 0.00062
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.896+4T>C rs190843577 0.00054
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
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.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.1020A>G (p.Pro340=) rs864622077 0.00014
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.1124+6G>T rs375862750 0.00013
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr) rs551602980 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_002485.5(NBN):c.930T>A (p.Ile310=) rs142813526 0.00006
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002485.5(NBN):c.-10A>T rs759094270 0.00004
NM_002485.5(NBN):c.1083A>G (p.Thr361=) rs761042468 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.720C>T (p.Ser240=) rs781323381 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.207A>G (p.Lys69=) rs754352569 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu) rs767123014 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2070+4G>A rs876660950 0.00002
NM_002485.5(NBN):c.2139T>C (p.Ala713=) rs755274971 0.00002
NM_002485.5(NBN):c.24G>A (p.Ala8=) rs779543740 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.-7C>A rs1210776869 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1154A>G (p.Lys385Arg) rs769453547 0.00001
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu) rs941732827 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1455G>A (p.Thr485=) rs772864909 0.00001
NM_002485.5(NBN):c.1619A>G (p.His540Arg) rs730881852 0.00001
NM_002485.5(NBN):c.1657A>G (p.Met553Val) rs746347634 0.00001
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) rs876659960 0.00001
NM_002485.5(NBN):c.1761C>T (p.Val587=) rs769773789 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.2023A>G (p.Ile675Val) rs1586040318 0.00001
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) rs200564603 0.00001
NM_002485.5(NBN):c.2132A>T (p.His711Leu) rs1810035825 0.00001
NM_002485.5(NBN):c.2134C>T (p.His712Tyr) rs781520763 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.2234+9T>G rs1446505128 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_002485.5(NBN):c.286G>A (p.Gly96Ser) rs730882133 0.00001
NM_002485.5(NBN):c.366C>T (p.Val122=) rs748684665 0.00001
NM_002485.5(NBN):c.370G>A (p.Gly124Arg) rs1064794806 0.00001
NM_002485.5(NBN):c.45A>G (p.Pro15=) rs577332041 0.00001
NM_002485.5(NBN):c.468A>C (p.Lys156Asn) rs730881858 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.777A>G (p.Glu259=) rs876660469 0.00001
NM_002485.5(NBN):c.827C>G (p.Thr276Arg) rs864622304 0.00001
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del) rs770500095
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup) rs770500095
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1191A>G (p.Ser397=) rs2129721280
NM_002485.5(NBN):c.1199C>T (p.Ala400Val) rs779218232
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn) rs148205441
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala) rs376653589
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1677A>T (p.Glu559Asp) rs1810537449
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1845+10A>G rs570914185
NM_002485.5(NBN):c.189C>T (p.Ile63=) rs1554568383
NM_002485.5(NBN):c.1915-5T>G rs1554556608
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) rs1181142133
NM_002485.5(NBN):c.2070+2T>G rs786203223
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe) rs876659097
NM_002485.5(NBN):c.2235-3C>T rs1554553897
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser) rs766237464
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.270T>A (p.Thr90=) rs776469548
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.308G>T (p.Gly103Val) rs1554568272
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.380C>G (p.Ala127Gly) rs1554567966
NM_002485.5(NBN):c.38_40del rs1350231265
NM_002485.5(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.5(NBN):c.440G>A (p.Cys147Tyr)
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.47A>G (p.Tyr16Cys) rs864622726
NM_002485.5(NBN):c.537A>C (p.Glu179Asp) rs1554566673
NM_002485.5(NBN):c.578T>C (p.Ile193Thr) rs1586101162
NM_002485.5(NBN):c.584+6T>C rs1554566602
NM_002485.5(NBN):c.584G>A (p.Ser195Asn) rs1811862674
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.678A>G (p.Thr226=) rs878854513
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.702+7A>G rs864622602
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.5(NBN):c.794C>T (p.Ala265Val) rs61612852
NM_002485.5(NBN):c.797C>G (p.Pro266Arg)
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.80G>A (p.Gly27Glu) rs755171159
NM_002485.5(NBN):c.829A>C (p.Asn277His) rs1563559349
NM_002485.5(NBN):c.896+7A>G rs1060504926
NM_002485.5(NBN):c.913A>C (p.Ile305Leu) rs1554562189
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr) rs730881848

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