ClinVar Miner

List of variants in gene NBN reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 443
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.896+4T>C rs190843577 0.00054
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
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.939G>A (p.Ala313=) rs145750430 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.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
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.266G>C (p.Arg89Pro) rs747315554 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.279G>A (p.Ser93=) rs587780781 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_002485.5(NBN):c.1986G>A (p.Leu662=) rs571803328 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
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.1306T>C (p.Leu436=) rs375885975 0.00006
NM_002485.5(NBN):c.819A>T (p.Thr273=) rs147660518 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.1083A>G (p.Thr361=) rs761042468 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.147T>G (p.Thr49=) rs749206453 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.720C>T (p.Ser240=) rs781323381 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.1419A>G (p.Gln473=) rs587780535 0.00003
NM_002485.5(NBN):c.495C>G (p.Leu165=) rs764290829 0.00003
NM_002485.5(NBN):c.936G>A (p.Leu312=) rs148517156 0.00003
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala) rs201373377 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002485.5(NBN):c.1434C>T (p.Cys478=) rs1060503473 0.00002
NM_002485.5(NBN):c.193G>A (p.Val65Ile) rs778998026 0.00002
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu) rs6413508 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2139T>C (p.Ala713=) rs755274971 0.00002
NM_002485.5(NBN):c.2190A>G (p.Gln730=) rs786203112 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.549A>T (p.Ala183=) rs780661058 0.00002
NM_002485.5(NBN):c.657A>G (p.Lys219=) rs745768664 0.00002
NM_002485.5(NBN):c.663C>T (p.Ile221=) rs372705975 0.00002
NM_002485.5(NBN):c.949A>G (p.Met317Val) rs587782502 0.00002
NM_002485.5(NBN):c.966C>T (p.Tyr322=) rs748453607 0.00002
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1065C>T (p.Ser355=) rs876659205 0.00001
NM_002485.5(NBN):c.1086A>G (p.Thr362=) rs876659734 0.00001
NM_002485.5(NBN):c.1122A>G (p.Thr374=) rs876660925 0.00001
NM_002485.5(NBN):c.1173A>G (p.Gln391=) rs780602705 0.00001
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser) rs529340553 0.00001
NM_002485.5(NBN):c.1239T>C (p.Asn413=) rs1563531944 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.1281A>G (p.Pro427=) rs1554559167 0.00001
NM_002485.5(NBN):c.1299A>G (p.Pro433=) rs1161505808 0.00001
NM_002485.5(NBN):c.1315A>G (p.Ile439Val) rs752837508 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.1455G>A (p.Thr485=) rs772864909 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.1563C>T (p.Asn521=) rs765959451 0.00001
NM_002485.5(NBN):c.156T>C (p.Phe52=) rs777925415 0.00001
NM_002485.5(NBN):c.15G>A (p.Leu5=) rs1363180098 0.00001
NM_002485.5(NBN):c.15G>C (p.Leu5=) rs1363180098 0.00001
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) rs1586053587 0.00001
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) rs876659960 0.00001
NM_002485.5(NBN):c.1695G>A (p.Gln565=) rs557356152 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.1761C>T (p.Val587=) rs769773789 0.00001
NM_002485.5(NBN):c.1765G>A (p.Val589Ile) rs1554558251 0.00001
NM_002485.5(NBN):c.1932G>A (p.Gln644=) rs754783870 0.00001
NM_002485.5(NBN):c.195A>G (p.Val65=) rs1385971118 0.00001
NM_002485.5(NBN):c.1989G>A (p.Val663=) rs757753217 0.00001
NM_002485.5(NBN):c.2007C>T (p.Ser669=) rs200399787 0.00001
NM_002485.5(NBN):c.2037T>C (p.Tyr679=) rs864622555 0.00001
NM_002485.5(NBN):c.2061A>G (p.Lys687=) rs758675398 0.00001
NM_002485.5(NBN):c.2073C>T (p.Val691=) rs876658178 0.00001
NM_002485.5(NBN):c.2115A>G (p.Gly705=) rs1173178388 0.00001
NM_002485.5(NBN):c.2136T>C (p.His712=) rs1429343146 0.00001
NM_002485.5(NBN):c.2151A>G (p.Thr717=) rs760687282 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002485.5(NBN):c.2211G>A (p.Glu737=) rs753596803 0.00001
NM_002485.5(NBN):c.2235A>G (p.Arg745=) rs754865465 0.00001
NM_002485.5(NBN):c.2244T>A (p.Pro748=) rs1554553884 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_002485.5(NBN):c.243A>G (p.Glu81=) rs786203921 0.00001
NM_002485.5(NBN):c.286G>A (p.Gly96Ser) rs730882133 0.00001
NM_002485.5(NBN):c.297T>C (p.Phe99=) rs1563580668 0.00001
NM_002485.5(NBN):c.306T>C (p.Phe102=) rs1554568276 0.00001
NM_002485.5(NBN):c.322A>G (p.Ile108Val) rs1286492027 0.00001
NM_002485.5(NBN):c.333G>A (p.Glu111=) rs376455714 0.00001
NM_002485.5(NBN):c.33A>C (p.Ala11=) rs1554569661 0.00001
NM_002485.5(NBN):c.366C>T (p.Val122=) rs748684665 0.00001
NM_002485.5(NBN):c.384A>G (p.Leu128=) rs587780782 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.394A>G (p.Ile132Val) rs756946899 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002485.5(NBN):c.420A>G (p.Val140=) rs767296279 0.00001
NM_002485.5(NBN):c.432A>G (p.Thr144=) rs886043003 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.483A>G (p.Thr161=) rs758276775 0.00001
NM_002485.5(NBN):c.510A>G (p.Pro170=) rs772311947 0.00001
NM_002485.5(NBN):c.525A>G (p.Glu175=) rs769400631 0.00001
NM_002485.5(NBN):c.57G>A (p.Leu19=) rs1434720352 0.00001
NM_002485.5(NBN):c.588T>C (p.Phe196=) rs745821999 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.621T>C (p.Ser207=) rs876658177 0.00001
NM_002485.5(NBN):c.627T>C (p.Asn209=) rs767520591 0.00001
NM_002485.5(NBN):c.660A>G (p.Gln220=) rs876658674 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.692A>G (p.Asn231Ser) rs1309274168 0.00001
NM_002485.5(NBN):c.696C>T (p.Ala232=) rs566091759 0.00001
NM_002485.5(NBN):c.69G>A (p.Glu23=) rs876659411 0.00001
NM_002485.5(NBN):c.72C>T (p.Tyr24=) rs1001590969 0.00001
NM_002485.5(NBN):c.75T>G (p.Val25=) rs1000181272 0.00001
NM_002485.5(NBN):c.777A>G (p.Glu259=) rs876660469 0.00001
NM_002485.5(NBN):c.800G>A (p.Gly267Glu) rs747837246 0.00001
NM_002485.5(NBN):c.810T>G (p.Val270=) rs1431420897 0.00001
NM_002485.5(NBN):c.954T>A (p.Thr318=) rs1554562137 0.00001
NM_002485.5(NBN):c.990T>C (p.Ser330=) rs1482013266 0.00001
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.1002G>A (p.Lys334=) rs1554560517
NM_002485.5(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.5(NBN):c.1017A>G (p.Gly339=)
NM_002485.5(NBN):c.1032A>G (p.Gln344=) rs1159161073
NM_002485.5(NBN):c.1035C>A (p.Gly345=) rs146605798
NM_002485.5(NBN):c.1036G>C (p.Val346Leu) rs200297914
NM_002485.5(NBN):c.1036G>T (p.Val346Leu)
NM_002485.5(NBN):c.1041A>C (p.Ser347=) rs1586065991
NM_002485.5(NBN):c.1050A>G (p.Glu350=)
NM_002485.5(NBN):c.105T>A (p.Ile35=) rs78870221
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.1068C>G (p.Ala356=) rs1586065793
NM_002485.5(NBN):c.1080T>C (p.Thr360=) rs876660415
NM_002485.5(NBN):c.1095T>C (p.Ala365=) rs1554560368
NM_002485.5(NBN):c.109A>G (p.Asn37Asp) rs876658411
NM_002485.5(NBN):c.10C>T (p.Leu4=) rs1426394881
NM_002485.5(NBN):c.1104A>G (p.Glu368=)
NM_002485.5(NBN):c.1107A>G (p.Ser369=) rs1586065630
NM_002485.5(NBN):c.1110G>A (p.Glu370=) rs1586065611
NM_002485.5(NBN):c.1113A>G (p.Gln371=)
NM_002485.5(NBN):c.1116A>G (p.Ala372=) rs1810848142
NM_002485.5(NBN):c.1129T>C (p.Leu377=)
NM_002485.5(NBN):c.1143A>G (p.Pro381=) rs1554559361
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1161C>T (p.Ser387=) rs1042756575
NM_002485.5(NBN):c.1170A>G (p.Glu390=) rs1554559326
NM_002485.5(NBN):c.1182A>G (p.Arg394=) rs1586059412
NM_002485.5(NBN):c.1188T>C (p.Leu396=) rs1554559312
NM_002485.5(NBN):c.1191A>G (p.Ser397=) rs2129721280
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
NM_002485.5(NBN):c.1203C>G (p.Pro401=) rs876660274
NM_002485.5(NBN):c.1209A>G (p.Val403=)
NM_002485.5(NBN):c.120G>A (p.Ser40=) rs774989816
NM_002485.5(NBN):c.120G>C (p.Ser40=) rs774989816
NM_002485.5(NBN):c.1218C>G (p.Ser406=) rs1554559261
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.5(NBN):c.1233T>A (p.Ser411=) rs1586059083
NM_002485.5(NBN):c.123C>A (p.Ile41=) rs887413615
NM_002485.5(NBN):c.123C>T (p.Ile41=) rs887413615
NM_002485.5(NBN):c.1242T>C (p.Asn414=) rs864622135
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn) rs764832388
NM_002485.5(NBN):c.1248G>A (p.Met416Ile) rs756572268
NM_002485.5(NBN):c.1260T>A (p.Thr420=) rs1554559199
NM_002485.5(NBN):c.1260T>G (p.Thr420=)
NM_002485.5(NBN):c.1266T>C (p.Ala422=) rs2129719439
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg) rs1444306607
NM_002485.5(NBN):c.1269G>A (p.Lys423=) rs2129719377
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.5(NBN):c.1296A>G (p.Ser432=) rs1554559144
NM_002485.5(NBN):c.129A>G (p.Arg43=) rs1327270687
NM_002485.5(NBN):c.12G>A (p.Leu4=) rs1812243844
NM_002485.5(NBN):c.1302T>A (p.Thr434=)
NM_002485.5(NBN):c.1311A>G (p.Pro437=)
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly) rs1456827107
NM_002485.5(NBN):c.1314T>C (p.Ser438=) rs1057521491
NM_002485.5(NBN):c.1320T>C (p.Asn440=)
NM_002485.5(NBN):c.1328A>G (p.Lys443Arg) rs1554559092
NM_002485.5(NBN):c.1333A>T (p.Arg445Trp)
NM_002485.5(NBN):c.1335G>A (p.Arg445=) rs1554559085
NM_002485.5(NBN):c.1338T>C (p.Ala446=) rs1373132755
NM_002485.5(NBN):c.1347G>A (p.Gln449=) rs761492204
NM_002485.5(NBN):c.1350G>A (p.Gln450=) rs2129717669
NM_002485.5(NBN):c.1353G>A (p.Gln451=) rs1554559063
NM_002485.5(NBN):c.1356C>T (p.Thr452=) rs1402518842
NM_002485.5(NBN):c.135T>C (p.His45=) rs770618624
NM_002485.5(NBN):c.1362C>T (p.Ser454=) rs587780775
NM_002485.5(NBN):c.1365C>A (p.Ile455=)
NM_002485.5(NBN):c.1368A>G (p.Arg456=) rs1554559036
NM_002485.5(NBN):c.1374C>T (p.Tyr458=) rs2129717018
NM_002485.5(NBN):c.1410A>G (p.Glu470=) rs1554558592
NM_002485.5(NBN):c.1428T>A (p.Ser476=)
NM_002485.5(NBN):c.1431A>G (p.Ser477=) rs759060729
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser) rs1199013619
NM_002485.5(NBN):c.1443A>C (p.Ala481=)
NM_002485.5(NBN):c.1443A>G (p.Ala481=) rs751121403
NM_002485.5(NBN):c.1452A>G (p.Glu484=)
NM_002485.5(NBN):c.1455G>T (p.Thr485=)
NM_002485.5(NBN):c.1458T>A (p.Ser486=) rs1554558524
NM_002485.5(NBN):c.1473A>G (p.Glu491=) rs2129702949
NM_002485.5(NBN):c.1479A>G (p.Thr493=)
NM_002485.5(NBN):c.147T>A (p.Thr49=) rs749206453
NM_002485.5(NBN):c.147T>C (p.Thr49=)
NM_002485.5(NBN):c.1482A>G (p.Gln494=)
NM_002485.5(NBN):c.1488T>C (p.Ala496=) rs2129702580
NM_002485.5(NBN):c.1491A>C (p.Thr497=)
NM_002485.5(NBN):c.1491A>G (p.Thr497=) rs1554558489
NM_002485.5(NBN):c.1497A>G (p.Ser499=) rs774032674
NM_002485.5(NBN):c.1498T>C (p.Leu500=) rs779116935
NM_002485.5(NBN):c.1500G>A (p.Leu500=) rs1586054284
NM_002485.5(NBN):c.1509T>C (p.Asn503=) rs876660751
NM_002485.5(NBN):c.1515G>A (p.Glu505=) rs2129702018
NM_002485.5(NBN):c.1518G>A (p.Gln506=)
NM_002485.5(NBN):c.1524A>G (p.Leu508=) rs1266314359
NM_002485.5(NBN):c.1533T>C (p.Asn511=)
NM_002485.5(NBN):c.1536G>A (p.Glu512=) rs754267250
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys) rs876658744
NM_002485.5(NBN):c.1551C>T (p.Asn517=) rs876658744
NM_002485.5(NBN):c.1557C>T (p.Asp519=)
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp) rs944499155
NM_002485.5(NBN):c.1572A>C (p.Thr524=)
NM_002485.5(NBN):c.1599A>G (p.Lys533=) rs2129700342
NM_002485.5(NBN):c.1623T>C (p.Ala541=) rs1209398379
NM_002485.5(NBN):c.1629A>G (p.Glu543=) rs786201093
NM_002485.5(NBN):c.1633C>T (p.Leu545=)
NM_002485.5(NBN):c.1638A>G (p.Arg546=)
NM_002485.5(NBN):c.1644T>G (p.Asn548Lys)
NM_002485.5(NBN):c.1647A>G (p.Lys549=) rs988523294
NM_002485.5(NBN):c.1653G>A (p.Arg551=)
NM_002485.5(NBN):c.1659G>C (p.Met553Ile)
NM_002485.5(NBN):c.1671C>T (p.Ala557=) rs1057521670
NM_002485.5(NBN):c.1680T>C (p.Asp560=)
NM_002485.5(NBN):c.1686A>C (p.Val562=)
NM_002485.5(NBN):c.168C>T (p.Asn56=) rs1586111516
NM_002485.5(NBN):c.1698A>G (p.Leu566=) rs1431614225
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu) rs1554558312
NM_002485.5(NBN):c.169C>T (p.Leu57=) rs1586111504
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu) rs730881853
NM_002485.5(NBN):c.1701C>T (p.Phe567=) rs730881853
NM_002485.5(NBN):c.1707C>T (p.Asp569=) rs1057522522
NM_002485.5(NBN):c.1713A>G (p.Lys571=) rs2129698120
NM_002485.5(NBN):c.1716A>G (p.Pro572=) rs1586053267
NM_002485.5(NBN):c.1719G>A (p.Glu573=) rs1586053258
NM_002485.5(NBN):c.1722A>G (p.Leu574=)
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr) rs1255733657
NM_002485.5(NBN):c.1728T>C (p.Ile576=)
NM_002485.5(NBN):c.1734G>C (p.Val578=)
NM_002485.5(NBN):c.1746A>G (p.Lys582=) rs1586053134
NM_002485.5(NBN):c.1761C>G (p.Val587=)
NM_002485.5(NBN):c.1764T>C (p.Asn588=) rs1554558253
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly) rs553571469
NM_002485.5(NBN):c.1806T>G (p.Thr602=)
NM_002485.5(NBN):c.1812T>C (p.Ser604=) rs1586052747
NM_002485.5(NBN):c.1845T>C (p.Ser615=) rs1810519877
NM_002485.5(NBN):c.189C>T (p.Ile63=) rs1554568383
NM_002485.5(NBN):c.18C>G (p.Pro6=) rs786201394
NM_002485.5(NBN):c.18C>T (p.Pro6=) rs786201394
NM_002485.5(NBN):c.1920T>C (p.Asn640=) rs1554556602
NM_002485.5(NBN):c.1924A>G (p.Lys642Glu)
NM_002485.5(NBN):c.1929T>A (p.Leu643=)
NM_002485.5(NBN):c.192T>G (p.Pro64=) rs1554568378
NM_002485.5(NBN):c.1966T>C (p.Leu656=) rs878854508
NM_002485.5(NBN):c.1971T>A (p.Thr657=) rs1586040625
NM_002485.5(NBN):c.1983A>G (p.Ser661=) rs876658655
NM_002485.5(NBN):c.198G>A (p.Leu66=) rs757735005
NM_002485.5(NBN):c.1992T>C (p.Ile664=) rs1810182762
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.5(NBN):c.2004T>C (p.Thr668=) rs1563513242
NM_002485.5(NBN):c.2004T>G (p.Thr668=) rs1563513242
NM_002485.5(NBN):c.2015_2016inv (p.Pro672Leu)
NM_002485.5(NBN):c.2016A>C (p.Pro672=) rs1061302
NM_002485.5(NBN):c.2016A>T (p.Pro672=)
NM_002485.5(NBN):c.201A>C (p.Thr67=) rs876659059
NM_002485.5(NBN):c.201A>G (p.Thr67=)
NM_002485.5(NBN):c.2022C>G (p.Gly674=)
NM_002485.5(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.5(NBN):c.202T>A (p.Leu68Ile)
NM_002485.5(NBN):c.2034T>C (p.Asp678=) rs769252040
NM_002485.5(NBN):c.2044C>T (p.Leu682=) rs1554556483
NM_002485.5(NBN):c.2046A>G (p.Leu682=) rs1554556481
NM_002485.5(NBN):c.204A>G (p.Leu68=) rs786201800
NM_002485.5(NBN):c.2067A>G (p.Lys689=)
NM_002485.5(NBN):c.2082T>C (p.Pro694=) rs7823648
NM_002485.5(NBN):c.2088A>G (p.Ala696=)
NM_002485.5(NBN):c.20C>T (p.Ala7Val) rs781057669
NM_002485.5(NBN):c.2103C>T (p.His701=) rs753991062
NM_002485.5(NBN):c.2109T>C (p.Ile703=)
NM_002485.5(NBN):c.2122C>T (p.Leu708=) rs756580887
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
NM_002485.5(NBN):c.2133T>C (p.His711=) rs2130755705
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2148T>C (p.Asn716=) rs1586035178
NM_002485.5(NBN):c.2163G>A (p.Glu721=) rs786202747
NM_002485.5(NBN):c.216T>C (p.Ser72=)
NM_002485.5(NBN):c.2172G>A (p.Arg724=) rs1057523944
NM_002485.5(NBN):c.2187A>T (p.Val729=) rs1057523526
NM_002485.5(NBN):c.21C>G (p.Ala7=) rs370050587
NM_002485.5(NBN):c.21C>T (p.Ala7=) rs370050587
NM_002485.5(NBN):c.2212_2213delinsAG (p.Ser738=)
NM_002485.5(NBN):c.2217T>C (p.Leu739=) rs760207156
NM_002485.5(NBN):c.222T>C (p.Tyr74=) rs1563581193
NM_002485.5(NBN):c.2232T>C (p.Phe744=)
NM_002485.5(NBN):c.2245T>A (p.Tyr749Asn) rs1199617209
NM_002485.5(NBN):c.225T>C (p.Gly75=)
NM_002485.5(NBN):c.228C>T (p.Thr76=) rs1586108833
NM_002485.5(NBN):c.264C>T (p.Ser88=) rs2129914967
NM_002485.5(NBN):c.265C>A (p.Arg89=)
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.267A>G (p.Arg89=) rs1554568316
NM_002485.5(NBN):c.270T>A (p.Thr90=) rs776469548
NM_002485.5(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.5(NBN):c.285T>C (p.Asp95=)
NM_002485.5(NBN):c.288T>C (p.Gly96=) rs1586108509
NM_002485.5(NBN):c.289A>G (p.Ile97Val) rs730881855
NM_002485.5(NBN):c.300A>C (p.Gly100=)
NM_002485.5(NBN):c.303G>T (p.Val101=) rs1554568287
NM_002485.5(NBN):c.309A>T (p.Gly103=) rs2129914059
NM_002485.5(NBN):c.312T>C (p.Ser104=) rs1554568257
NM_002485.5(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.5(NBN):c.318C>T (p.Phe106=)
NM_002485.5(NBN):c.339G>A (p.Leu113=) rs774622977
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.34G>C (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.351T>G (p.Ser117=) rs1163807799
NM_002485.5(NBN):c.360A>G (p.Leu120=) rs1563579373
NM_002485.5(NBN):c.366C>A (p.Val122=)
NM_002485.5(NBN):c.36A>C (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.36A>T (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.37+4A>C rs1586115968
NM_002485.5(NBN):c.375A>G (p.Lys125=) rs1554567977
NM_002485.5(NBN):c.378T>G (p.Thr126=) rs1586107111
NM_002485.5(NBN):c.387T>C (p.Asn129=)
NM_002485.5(NBN):c.393T>G (p.Ala131=) rs372061224
NM_002485.5(NBN):c.397T>C (p.Leu133=) rs1229464840
NM_002485.5(NBN):c.399G>A (p.Leu133=) rs2129909551
NM_002485.5(NBN):c.39A>C (p.Gly13=) rs876660470
NM_002485.5(NBN):c.402A>G (p.Gln134=) rs2129909448
NM_002485.5(NBN):c.414T>C (p.Phe138=) rs1554567933
NM_002485.5(NBN):c.417T>C (p.Thr139=) rs760586161
NM_002485.5(NBN):c.447C>T (p.His149=) rs868089138
NM_002485.5(NBN):c.453C>T (p.Val151=) rs1176879721
NM_002485.5(NBN):c.459A>C (p.Val153=) rs566630862
NM_002485.5(NBN):c.459A>G (p.Val153=) rs566630862
NM_002485.5(NBN):c.462A>T (p.Ser154=) rs1214415718
NM_002485.5(NBN):c.471T>C (p.Val157=) rs864622275
NM_002485.5(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.5(NBN):c.489T>C (p.Cys163=)
NM_002485.5(NBN):c.48C>T (p.Tyr16=) rs2129926091
NM_002485.5(NBN):c.492A>G (p.Ala164=) rs765493509
NM_002485.5(NBN):c.495C>A (p.Leu165=)
NM_002485.5(NBN):c.495C>T (p.Leu165=) rs764290829
NM_002485.5(NBN):c.504A>C (p.Gly168=) rs1057521464
NM_002485.5(NBN):c.504A>G (p.Gly168=) rs1057521464
NM_002485.5(NBN):c.504A>T (p.Gly168=)
NM_002485.5(NBN):c.528T>C (p.Tyr176=) rs2129889177
NM_002485.5(NBN):c.534T>A (p.Thr178=) rs2129888979
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.5(NBN):c.543G>A (p.Leu181=) rs876660833
NM_002485.5(NBN):c.549A>G (p.Ala183=) rs780661058
NM_002485.5(NBN):c.54T>G (p.Leu18=) rs1586112108
NM_002485.5(NBN):c.558C>T (p.Ser186=)
NM_002485.5(NBN):c.55T>C (p.Leu19=) rs1586112097
NM_002485.5(NBN):c.584+5A>G rs1309889719
NM_002485.5(NBN):c.585-4A>G rs2129840021
NM_002485.5(NBN):c.60T>A (p.Thr20=)
NM_002485.5(NBN):c.615T>C (p.Ile205=) rs2129839117
NM_002485.5(NBN):c.618A>G (p.Gly206=) rs1554564281
NM_002485.5(NBN):c.620G>A (p.Ser207Asn) rs587780099
NM_002485.5(NBN):c.630T>C (p.Val210=)
NM_002485.5(NBN):c.639A>G (p.Ser213=)
NM_002485.5(NBN):c.63C>T (p.Gly21=) rs1064795458
NM_002485.5(NBN):c.642A>G (p.Gly214=) rs763363235
NM_002485.5(NBN):c.648G>A (p.Gln216=) rs786201883
NM_002485.5(NBN):c.672G>C (p.Gly224=)
NM_002485.5(NBN):c.678A>G (p.Thr226=) rs878854513
NM_002485.5(NBN):c.693T>C (p.Asn231=) rs878854514
NM_002485.5(NBN):c.723A>G (p.Ala241=) rs1554564031
NM_002485.5(NBN):c.723A>T (p.Ala241=) rs1554564031
NM_002485.5(NBN):c.738T>C (p.Gly246=) rs2129830935
NM_002485.5(NBN):c.741G>A (p.Gly247=) rs747021126
NM_002485.5(NBN):c.744A>G (p.Glu248=) rs1554564012
NM_002485.5(NBN):c.747T>A (p.Ala249=) rs780134747
NM_002485.5(NBN):c.750G>A (p.Arg250=) rs758852942
NM_002485.5(NBN):c.751T>C (p.Leu251=) rs1811463703
NM_002485.5(NBN):c.768T>C (p.Asn256=)
NM_002485.5(NBN):c.774A>G (p.Glu258=) rs1586086940
NM_002485.5(NBN):c.786C>T (p.Phe262=)
NM_002485.5(NBN):c.790T>C (p.Leu264=) rs2129829667
NM_002485.5(NBN):c.795T>C (p.Ala265=)
NM_002485.5(NBN):c.798G>T (p.Pro266=) rs368786672
NM_002485.5(NBN):c.804G>C (p.Thr268=) rs141443872
NM_002485.5(NBN):c.816T>C (p.Asp272=) rs1811457608
NM_002485.5(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.5(NBN):c.822A>G (p.Gly274=) rs1270883453
NM_002485.5(NBN):c.839C>T (p.Thr280Ile) rs2129828243
NM_002485.5(NBN):c.840C>A (p.Thr280=) rs876659147
NM_002485.5(NBN):c.840C>T (p.Thr280=) rs876659147
NM_002485.5(NBN):c.843A>G (p.Leu281=) rs1586086525
NM_002485.5(NBN):c.849T>C (p.Pro283=)
NM_002485.5(NBN):c.854G>C (p.Cys285Ser) rs863224715
NM_002485.5(NBN):c.864A>G (p.Lys288=) rs1554563842
NM_002485.5(NBN):c.873G>A (p.Gln291=) rs786202939
NM_002485.5(NBN):c.87A>G (p.Lys29=)
NM_002485.5(NBN):c.891C>T (p.Leu297=) rs1554563793
NM_002485.5(NBN):c.909A>G (p.Arg303=)
NM_002485.5(NBN):c.912T>C (p.Pro304=)
NM_002485.5(NBN):c.924A>G (p.Ala308=) rs1554562173
NM_002485.5(NBN):c.930T>C (p.Ile310=) rs142813526
NM_002485.5(NBN):c.942G>A (p.Val314=) rs749757928
NM_002485.5(NBN):c.942G>T (p.Val314=)
NM_002485.5(NBN):c.954T>C (p.Thr318=) rs1554562137
NM_002485.5(NBN):c.957A>T (p.Thr319=) rs1586075933
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.969T>C (p.Cys323=) rs773860553
NM_002485.5(NBN):c.972T>C (p.Asp324=)
NM_002485.5(NBN):c.975T>A (p.Pro325=)
NM_002485.5(NBN):c.975T>C (p.Pro325=)
NM_002485.5(NBN):c.977A>G (p.Gln326Arg) rs876659586
NM_002485.5(NBN):c.981C>G (p.Gly327=)
NM_002485.5(NBN):c.999A>G (p.Leu333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.