ClinVar Miner

List of variants in gene NBN reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP
NM_002485.4(NBN):c.1005_1007AAC[1] (p.Thr337del) rs770500095
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.104T>C (p.Ile35Thr) rs587780773
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.4(NBN):c.1124+1G>A rs1057517209
NM_002485.4(NBN):c.1124+37C>G rs577575764
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1125-1G>A rs1057517102
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11del (p.Leu4fs) rs1064793210
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.172-529G>A rs104895039
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.1749_1751GGA[1] (p.Glu585del) rs1554558265
NM_002485.4(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.4(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.4(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.4(NBN):c.1998_1999CT[1] (p.Ser667fs) rs1057516852
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2029_2031GAT[1] (p.Asp678del) rs1554556498
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2070+2del rs1057517075
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.214_215ins18 (p.?) rs1554568352
NM_002485.4(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2184+8G>C rs730881842
NM_002485.4(NBN):c.2185-1G>A rs1057517262
NM_002485.4(NBN):c.2205_2207AGA[1] (p.Glu737del) rs1554554251
NM_002485.4(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.4(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.4(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.4(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.4(NBN):c.2235-12C>T rs1554553904
NM_002485.4(NBN):c.224G>C (p.Gly75Ala) rs587782179
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.4(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.4(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.4(NBN):c.321-3C>T rs751356470
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.350_352CTT[1] (p.Ser118del) rs730881841
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.37+6G>C rs540868733
NM_002485.4(NBN):c.37+6G>T rs540868733
NM_002485.4(NBN):c.37+7G>A rs372850559
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-3C>G rs876661099
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.4(NBN):c.415A>G (p.Thr139Ala) rs543852763
NM_002485.4(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.4(NBN):c.480+10A>G rs878854512
NM_002485.4(NBN):c.483A>G (p.Thr161=) rs758276775
NM_002485.4(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.4(NBN):c.585-1G>A rs1394578008
NM_002485.4(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.633T>A (p.Asp211Glu) rs377700348
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.644G>A (p.Arg215Gln) rs61753718
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.702+1G>A rs1057517104
NM_002485.4(NBN):c.702+7A>G rs864622602
NM_002485.4(NBN):c.703-18G>A rs769418
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.4(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.4(NBN):c.995-2A>C rs876659521
NM_002485.4(NBN):c.995-2A>G rs876659521

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