ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly, normal intelligence and immunodeficiency by Invitae

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Total variants: 39
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HGVS dbSNP
NC_000008.10:g.(?_90947800)_(90949313_?)del
NC_000008.10:g.(?_90947804)_(90949309_?)del
NC_000008.10:g.(?_90947804)_(90993757_?)del
NC_000008.10:g.(?_90955471)_(90983528_?)dup
NC_000008.10:g.(?_90990438)_(90993131_?)del
NC_000008.10:g.(?_90990442)_(90993127_?)del
NM_002485.4(NBN):c.1124+2T>G rs1554560352
NM_002485.4(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.4(NBN):c.1397+2T>A rs730881850
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.1845+2T>C
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.2070+2del rs1057517075
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2071-2A>C rs775397477
NM_002485.4(NBN):c.2119_2141del (p.Asp707fs) rs1554555782
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2185-1G>A rs1057517262
NM_002485.4(NBN):c.2185-?_*(1_?)del
NM_002485.4(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.4(NBN):c.2226_2234+4del rs1563497529
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.585-1G>A rs1394578008
NM_002485.4(NBN):c.585-2A>G rs772005832
NM_002485.4(NBN):c.702+1G>A rs1057517104
NM_002485.4(NBN):c.702+1G>C rs1057517104
NM_002485.4(NBN):c.896+2T>C
NM_002485.4(NBN):c.897-2A>G
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.995-1G>C rs1554560523
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.2156dup (p.Glu720fs)

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