ClinVar Miner

List of variants in gene NBN reported as likely pathogenic for Nijmegen breakage syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.2070+2del rs1057517075 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.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NC_000008.10:g.(?_90947810)_(90960130_?)del
NC_000008.10:g.(?_90955471)_(90958533_?)del
NC_000008.10:g.(?_90965634)_(90971364_?)del
NC_000008.10:g.(?_90970943)_(90971092_?)dup
NC_000008.10:g.(?_90992952)_(90993761_?)del
NC_000008.11:g.(?_89935576)_(89937081_?)del
NC_000008.11:g.(?_89935582)_(89937085_?)del
NC_000008.11:g.(?_89946130)_(89946305_?)del
NC_000008.11:g.(?_89978210)_(89980903_?)del
NM_002485.4(NBN):c.2185-?_*(1_?)del
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1124+1G>A rs1057517209
NM_002485.5(NBN):c.1124+1G>C rs1057517209
NM_002485.5(NBN):c.1124+2T>G rs1554560352
NM_002485.5(NBN):c.1125-1G>A rs1057517102
NM_002485.5(NBN):c.1125-1G>C
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter) rs1554559308
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1G>A
NM_002485.5(NBN):c.1397+1_1397+3delinsACA
NM_002485.5(NBN):c.1397+1_1397+9del rs2129716262
NM_002485.5(NBN):c.1397+2T>A rs730881850
NM_002485.5(NBN):c.1398-2A>G rs2129704501
NM_002485.5(NBN):c.144_145del (p.Leu48fs)
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs)
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs)
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs)
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+1G>C rs931715719
NM_002485.5(NBN):c.171+1G>T rs931715719
NM_002485.5(NBN):c.172-1G>A rs1391598284
NM_002485.5(NBN):c.172-1G>T rs1391598284
NM_002485.5(NBN):c.172-2A>T rs2129916685
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.1767del (p.Arg590fs)
NM_002485.5(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+2T>C rs1586052622
NM_002485.5(NBN):c.1845+2T>G
NM_002485.5(NBN):c.1923del (p.Asp641fs)
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs)
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs) rs1057516852
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.5(NBN):c.2051dup (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2070+1G>T rs1554556454
NM_002485.5(NBN):c.2070+2T>A rs786203223
NM_002485.5(NBN):c.2070+2T>G rs786203223
NM_002485.5(NBN):c.2071-1175_2184+2del
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071-1G>T
NM_002485.5(NBN):c.2071-2A>C rs775397477
NM_002485.5(NBN):c.2071-2A>G rs775397477
NM_002485.5(NBN):c.2071-2A>T
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs) rs1554555782
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2127dup (p.Ala710fs)
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs) rs2130755743
NM_002485.5(NBN):c.2132_2133del (p.His711fs) rs2130755717
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs) rs2130755572
NM_002485.5(NBN):c.2144dup (p.Asn716fs) rs1810033982
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs) rs2130755422
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs) rs2130755457
NM_002485.5(NBN):c.2155_2156del (p.Leu719fs)
NM_002485.5(NBN):c.2160dup (p.Glu721fs)
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.5(NBN):c.2173del (p.Gln725fs) rs2130755261
NM_002485.5(NBN):c.2184+1G>A rs756363734
NM_002485.5(NBN):c.2184+2T>A rs75823099
NM_002485.5(NBN):c.2184+2T>G rs75823099
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2187dup (p.Gln730fs) rs2130739402
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.5(NBN):c.2226_2234+4del rs1563497529
NM_002485.5(NBN):c.2234+1G>A rs1586024147
NM_002485.5(NBN):c.2234+1G>T rs1586024147
NM_002485.5(NBN):c.2235-2A>G rs767094704
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.321-1G>A
NM_002485.5(NBN):c.321-2A>G rs587777931
NM_002485.5(NBN):c.35_37+10del rs781710700
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.5(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.5(NBN):c.47_51del (p.Tyr16fs)
NM_002485.5(NBN):c.480+2T>G
NM_002485.5(NBN):c.530_531del (p.Phe177fs)
NM_002485.5(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.5(NBN):c.584+1G>A rs1811862598
NM_002485.5(NBN):c.584+1G>T
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-1G>A rs1394578008
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.589del (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.702+1G>C rs1057517104
NM_002485.5(NBN):c.702+1G>T rs1057517104
NM_002485.5(NBN):c.702+1del rs1586088347
NM_002485.5(NBN):c.702+2T>A rs1811497703
NM_002485.5(NBN):c.702+2T>C rs1811497703
NM_002485.5(NBN):c.702+2del
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
NM_002485.5(NBN):c.803del (p.Thr268fs)
NM_002485.5(NBN):c.848del (p.Pro283fs) rs2129827996
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002485.5(NBN):c.896+1G>T rs778306619
NM_002485.5(NBN):c.896+2T>C rs754659423
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002485.5(NBN):c.897-2A>G rs864622090
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.5(NBN):c.962del (p.Asn321fs) rs1586075907
NM_002485.5(NBN):c.962dup (p.Asn321fs)
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+2T>C rs1586075690
NM_002485.5(NBN):c.995-1G>C rs1554560523
NM_002485.5(NBN):c.995-1G>T rs1554560523
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>C rs876659521
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.995G>A (p.Gly332Glu) rs2129747182

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.