ClinVar Miner

List of variants reported for Microcephaly, normal intelligence and immunodeficiency by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
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.1222A>G (p.Lys408Glu) rs34120922 0.00276
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.441C>T (p.Cys147=) rs137857529 0.00062
NM_002485.5(NBN):c.896+4T>C rs190843577 0.00054
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.37+6G>A rs540868733 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.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.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 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.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.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg) rs778881191 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002485.5(NBN):c.1789A>G (p.Ile597Val) rs864622167 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) rs767523514 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.335C>T (p.Pro112Leu) rs759723870 0.00003
NM_002485.5(NBN):c.547G>A (p.Ala183Thr) rs151070415 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.133C>G (p.His45Asp) rs773865323 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) rs587782330 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu) rs587780090 0.00002
NM_002485.5(NBN):c.1845+3A>G rs587780777 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) rs587781547 0.00002
NM_002485.5(NBN):c.1961T>G (p.Leu654Arg) rs758728938 0.00002
NM_002485.5(NBN):c.2086G>A (p.Ala696Thr) rs749276965 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.251A>G (p.Gln84Arg) rs762702597 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_002485.5(NBN):c.301G>A (p.Val101Met) rs786202139 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.902G>A (p.Gly301Asp) rs749857140 0.00002
NM_002485.5(NBN):c.911C>T (p.Pro304Leu) rs536965870 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1090G>A (p.Val364Ile) rs765403660 0.00001
NM_002485.5(NBN):c.1091T>C (p.Val364Ala) rs370229163 0.00001
NM_002485.5(NBN):c.112G>C (p.Asp38His) rs876659565 0.00001
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys) rs772909239 0.00001
NM_002485.5(NBN):c.1152C>G (p.Ile384Met) rs551802153 0.00001
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu) rs941732827 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.128G>A (p.Arg43Gln) rs759146120 0.00001
NM_002485.5(NBN):c.1321A>G (p.Lys441Glu) rs751876787 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) rs878854505 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys) rs587781557 0.00001
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp) rs1040315184 0.00001
NM_002485.5(NBN):c.1619A>G (p.His540Arg) rs730881852 0.00001
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly) rs587781624 0.00001
NM_002485.5(NBN):c.1657A>G (p.Met553Val) rs746347634 0.00001
NM_002485.5(NBN):c.1730A>T (p.Asp577Val) rs1341969209 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys) rs774324419 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1845+6T>C rs1033050295 0.00001
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala) rs763546746 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser) rs748073091 0.00001
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) rs200564603 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser) rs786204181 0.00001
NM_002485.5(NBN):c.323T>C (p.Ile108Thr) rs775217949 0.00001
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys) rs1355269482 0.00001
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) rs1060503468 0.00001
NM_002485.5(NBN):c.362A>G (p.Asp121Gly) rs770163751 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 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+3A>G rs587782407 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.64G>A (p.Val22Ile) rs369910645 0.00001
NM_002485.5(NBN):c.656A>G (p.Lys219Arg) rs376951288 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.703C>T (p.His235Tyr) rs1554564044 0.00001
NM_002485.5(NBN):c.773A>G (p.Glu258Gly) rs786203380 0.00001
NM_002485.5(NBN):c.783T>G (p.Asn261Lys) rs375336614 0.00001
NM_002485.5(NBN):c.796C>T (p.Pro266Ser) rs762956906 0.00001
NM_002485.5(NBN):c.820G>A (p.Gly274Arg) rs540837864 0.00001
NM_002485.5(NBN):c.827C>G (p.Thr276Arg) rs864622304 0.00001
NM_002485.5(NBN):c.83G>A (p.Arg28Lys) rs876658581 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=) rs779798363 0.00001
NM_002485.5(NBN):c.937G>T (p.Ala313Ser) rs876660584 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002485.5(NBN):c.986C>T (p.Pro329Leu) rs1386471248 0.00001
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del) rs770500095
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala) rs1554560506
NM_002485.5(NBN):c.1039T>C (p.Ser347Pro) rs1563539035
NM_002485.5(NBN):c.1058T>C (p.Met353Thr) rs1028462350
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.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.10C>G (p.Leu4Val) rs1426394881
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly) rs1563532732
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly) rs1810674788
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn) rs1554559357
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.115C>G (p.Gln39Glu) rs377730553
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1182A>G (p.Arg394=) rs1586059412
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1199C>T (p.Ala400Val) rs779218232
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr) rs1473253247
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle) rs587781532
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile) rs1406123091
NM_002485.5(NBN):c.1290G>C (p.Gln430His) rs1554559149
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn) rs786203131
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile) rs786203131
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly) rs1586058203
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.5(NBN):c.1381C>T (p.Pro461Ser) rs1554559015
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe) rs1563530730
NM_002485.5(NBN):c.139G>C (p.Val47Leu) rs876658446
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys) rs781213350
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly) rs780365310
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.5(NBN):c.1432T>C (p.Cys478Arg) rs1199013619
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr) rs876658347
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys) rs1060503472
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr) rs915825113
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg) rs757754183
NM_002485.5(NBN):c.1513G>A (p.Glu505Lys) rs1810553632
NM_002485.5(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro) rs1810552588
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu) rs587782150
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.161T>C (p.Val54Ala) rs769700749
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp) rs772234785
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu) rs876659451
NM_002485.5(NBN):c.1672A>G (p.Ile558Val) rs876659451
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys) rs980167139
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.5(NBN):c.171G>T (p.Leu57=) rs1554569001
NM_002485.5(NBN):c.1738G>A (p.Val580Ile) rs878854506
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr) rs146989944
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) rs1005715125
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) rs1005715125
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.5(NBN):c.1796C>T (p.Thr599Ile) rs775848374
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe) rs1810520002
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1914+5G>A rs1586043509
NM_002485.5(NBN):c.191C>G (p.Pro64Arg) rs1563581492
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys) rs764050423
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly) rs876658488
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser) rs1404296922
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) rs1425101720
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002485.5(NBN):c.2071-8T>C rs1178683426
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.5(NBN):c.2087C>T (p.Ala696Val) rs1462278909
NM_002485.5(NBN):c.209A>G (p.Asp70Gly) rs1586108952
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.2131C>T (p.His711Tyr) rs780333168
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del) rs1554554251
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp) rs753596803
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys) rs1060503471
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe) rs864622446
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys) rs773020664
NM_002485.5(NBN):c.231T>A (p.Phe77Leu) rs1554568336
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.283G>C (p.Asp95His) rs61753720
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.332A>C (p.Glu111Ala) rs876659320
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.356G>A (p.Cys119Tyr) rs749272832
NM_002485.5(NBN):c.363T>A (p.Asp121Glu) rs987369991
NM_002485.5(NBN):c.36A>T (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.37+6G>C rs540868733
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.403C>G (p.Leu135Val) rs1409617560
NM_002485.5(NBN):c.407G>A (p.Gly136Glu) rs1812025943
NM_002485.5(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.565C>G (p.Gln189Glu) rs1198614767
NM_002485.5(NBN):c.578T>C (p.Ile193Thr) rs1586101162
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.585-3C>T rs779430868
NM_002485.5(NBN):c.592C>T (p.Pro198Ser) rs1554564306
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.677C>T (p.Thr226Ile) rs1554564219
NM_002485.5(NBN):c.682A>G (p.Ile228Val) rs1204337347
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.702+1G>C rs1057517104
NM_002485.5(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.5(NBN):c.724G>A (p.Val242Ile) rs1434146100
NM_002485.5(NBN):c.77T>C (p.Val26Ala) rs781536675
NM_002485.5(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.5(NBN):c.836A>C (p.Gln279Pro) rs864622116
NM_002485.5(NBN):c.847C>T (p.Pro283Ser) rs1811453358
NM_002485.5(NBN):c.867G>T (p.Trp289Cys) rs1060503475
NM_002485.5(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.5(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.5(NBN):c.91T>C (p.Cys31Arg) rs876658553
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.951G>A (p.Met317Ile) rs1586075972
NM_002485.5(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435

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