ClinVar Miner

List of variants in gene NBN reported as likely pathogenic for not provided

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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.11del (p.Leu4fs) rs1064793210
NM_002485.4(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.4(NBN):c.139_140GT[1] (p.Leu48fs) rs750375741
NM_002485.4(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.1716dup (p.Glu573fs) rs1060503483
NM_002485.4(NBN):c.2070+2T>G rs786203223
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2108_2109dup (p.Gly704fs) rs876661189
NM_002485.4(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.4(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.4(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.224del (p.Gly75fs) rs1554568344
NM_002485.4(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.477dup (p.Lys160Ter) rs1554567847
NM_002485.4(NBN):c.481-2A>G rs751567476
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.697A>T (p.Lys233Ter) rs1554564205
NM_002485.4(NBN):c.6G>A (p.Trp2Ter) rs876661130
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.800dup (p.Thr268fs) rs1554563955
NM_002485.4(NBN):c.817_848dup (p.Asp284_Cys285insGlnGluTer) rs876661254
NM_002485.4(NBN):c.995-2A>G rs876659521

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