ClinVar Miner

List of variants in gene NBN reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter) rs1394437421 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter) rs1810856747
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs) rs1554560432
NM_002485.5(NBN):c.1040C>G (p.Ser347Ter) rs876660290
NM_002485.5(NBN):c.1048G>T (p.Glu350Ter) rs1586065938
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1089del (p.Thr362_Tyr363insTer)
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1146del (p.Glu383fs) rs1586059584
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
NM_002485.5(NBN):c.1157del (p.Val386fs)
NM_002485.5(NBN):c.1162A>T (p.Lys388Ter)
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter) rs2129721628
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.5(NBN):c.1225dup (p.Thr409fs)
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) rs2129720196
NM_002485.5(NBN):c.1245_1248dup (p.Val417fs)
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter) rs1554559212
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1259del (p.Thr420fs) rs1586058892
NM_002485.5(NBN):c.1273A>T (p.Arg425Ter)
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1288C>T (p.Gln430Ter)
NM_002485.5(NBN):c.1332dup (p.Arg445Ter) rs1586058444
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1387dup (p.Thr463fs)
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1424del (p.Met475fs)
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs) rs1586054483
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs) rs1586054483
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter) rs876658535
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
NM_002485.5(NBN):c.1546dup (p.Thr516fs)
NM_002485.5(NBN):c.1550dup (p.Asn517fs) rs587782344
NM_002485.5(NBN):c.1554dup (p.Asp519fs) rs1554558423
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1583del (p.Asp527_Leu528insTer) rs1554558406
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.1612_1696del (p.Lys538fs) rs1554558319
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640C>G (p.Ser547Ter)
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) rs1810540992
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1651del (p.Arg551fs)
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.5(NBN):c.1689_1693del (p.Glu564fs)
NM_002485.5(NBN):c.1690del (p.Glu564fs)
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs) rs1279184426
NM_002485.5(NBN):c.1718_1727dup (p.Asp577fs)
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.5(NBN):c.176_177insTA (p.Gln59fs)
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) rs1586052851
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter) rs1554558199
NM_002485.5(NBN):c.183del (p.Asp61fs) rs587782147
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1940del (p.Ser647fs) rs1554556587
NM_002485.5(NBN):c.1958_1959delinsC (p.Lys653fs)
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter) rs1810183784
NM_002485.5(NBN):c.1986_1999del (p.Val663fs) rs587782653
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter) rs1554556485
NM_002485.5(NBN):c.2051del (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter) rs786203920
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2126_2127insTA (p.Ala710fs)
NM_002485.5(NBN):c.2141del (p.Arg714fs)
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.228_231dup (p.Val78fs) rs2129915522
NM_002485.5(NBN):c.250C>T (p.Gln84Ter) rs1586108714
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.298G>T (p.Gly100Ter) rs2129914287
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.320G>A (p.Arg107Lys) rs1345924774
NM_002485.5(NBN):c.328del (p.Tyr110fs) rs1554568029
NM_002485.5(NBN):c.353del (p.Ser118fs)
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) rs1563579387
NM_002485.5(NBN):c.383T>G (p.Leu128Ter) rs1060503463
NM_002485.5(NBN):c.393_400del (p.Ile132fs) rs2129909528
NM_002485.5(NBN):c.409_430del (p.Gly137fs)
NM_002485.5(NBN):c.414del (p.Phe138fs)
NM_002485.5(NBN):c.436G>T (p.Glu146Ter) rs1812023357
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.468del (p.Val157fs) rs1563578596
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.492dup (p.Leu165fs) rs1586101609
NM_002485.5(NBN):c.523G>T (p.Glu175Ter)
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.552_568dup (p.Pro190fs) rs1586101198
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.563dup (p.Gln189fs) rs1586101226
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.672del (p.Thr226fs) rs1586088503
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
NM_002485.5(NBN):c.794dup (p.Pro266fs)
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.827del (p.Thr276fs) rs1586086621
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.844dup (p.Ile282fs) rs1554563861
NM_002485.5(NBN):c.848del (p.Pro283fs) rs2129827996
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.880_886del (p.Met294fs) rs1586086338
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973

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