ClinVar Miner

List of variants in gene NBN reported as pathogenic for Microcephaly, normal intelligence and immunodeficiency

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NC_000008.10:g.(?_90992962)_(90996899_?)del
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1036_1037GT[3] (p.Ser347fs) rs1554560432
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.4(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.4(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.4(NBN):c.11del (p.Leu4fs) rs1064793210
NM_002485.4(NBN):c.123del (p.Ser42fs) rs587781891
NM_002485.4(NBN):c.1253C>A (p.Ser418Ter)
NM_002485.4(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1327A>T (p.Lys443Ter)
NM_002485.4(NBN):c.1332dup (p.Arg445Ter)
NM_002485.4(NBN):c.1377dup (p.Gln460fs) rs1554559028
NM_002485.4(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.4(NBN):c.1397+1del rs1060503467
NM_002485.4(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.4(NBN):c.139_140GT[1] (p.Leu48fs) rs750375741
NM_002485.4(NBN):c.1419_1431dup (p.Cys478fs) rs864622333
NM_002485.4(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.4(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.4(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.4(NBN):c.1553C>G (p.Ser518Ter) rs1060503480
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.1647_1651del (p.Lys550fs) rs766044684
NM_002485.4(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.4(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.4(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.4(NBN):c.1675dup (p.Glu559fs) rs1563525678
NM_002485.4(NBN):c.1693C>T (p.Gln565Ter)
NM_002485.4(NBN):c.1697dup (p.Leu566fs)
NM_002485.4(NBN):c.1716dup (p.Glu573fs) rs1060503483
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1737del (p.Val580fs) rs1563525210
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.1750G>T (p.Glu584Ter) rs1554558270
NM_002485.4(NBN):c.175C>T (p.Gln59Ter) rs1554568427
NM_002485.4(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.4(NBN):c.1780del (p.Arg594fs)
NM_002485.4(NBN):c.1787_1788insC (p.Ile597fs)
NM_002485.4(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.4(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.4(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.4(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.4(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.4(NBN):c.2083G>T (p.Gly695Ter) rs1554555835
NM_002485.4(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.4(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2165G>A (p.Trp722Ter) rs786204181
NM_002485.4(NBN):c.2188C>T (p.Gln730Ter) rs1554554267
NM_002485.4(NBN):c.222T>G (p.Tyr74Ter) rs1563581193
NM_002485.4(NBN):c.226dup (p.Thr76fs) rs1554568340
NM_002485.4(NBN):c.231dup (p.Val78fs)
NM_002485.4(NBN):c.241G>T (p.Glu81Ter)
NM_002485.4(NBN):c.250C>T (p.Gln84Ter)
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.26del (p.Gly9fs) rs1060503485
NM_002485.4(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.4(NBN):c.377del (p.Thr126fs) rs1554567972
NM_002485.4(NBN):c.383T>G (p.Leu128Ter) rs1060503463
NM_002485.4(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.4(NBN):c.468del (p.Val157fs) rs1563578596
NM_002485.4(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.4(NBN):c.496_512del (p.Ile166fs) rs758830069
NM_002485.4(NBN):c.499dup (p.Cys167fs)
NM_002485.4(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.4(NBN):c.60del (p.Gly21fs) rs758708229
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.4(NBN):c.681del (p.Phe227fs) rs1057519586
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.7A>T (p.Lys3Ter) rs779098734
NM_002485.4(NBN):c.804_805GT[2] (p.Val270fs) rs786202490
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.836del (p.Gln279fs) rs1554563878
NM_002485.4(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.4(NBN):c.842T>G rs786205135
NM_002485.4(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.4(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.4(NBN):c.897-?_2184+?del
NM_002485.4(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.4(NBN):c.911del (p.Pro304fs) rs1563549036
NM_002485.4(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.4(NBN):c.91_92TG[1] (p.Ala32fs) rs864622253
NM_002485.4(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.4(NBN):c.966C>G (p.Tyr322Ter)
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.4(NBN):c.992_994+3del rs1563548315
NM_002485.4(NBN):c.[1030C>T];[842T>G]

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