ClinVar Miner

List of variants in gene NBN reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
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.2070+2del rs1057517075 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 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.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>C
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.163_171+3del rs1057516772
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.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.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.2071-1G>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.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.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.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.480+2T>G
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.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+2T>A rs1811497703
NM_002485.5(NBN):c.702+2T>C rs1811497703
NM_002485.5(NBN):c.702+2del
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.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

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