ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745 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.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1124+1G>A rs1057517209
NM_002485.5(NBN):c.1125-1G>A rs1057517102
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
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.1846-1G>A rs61753717
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs) rs1057516852
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2235-2A>G rs767094704
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.5(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.5(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.5(NBN):c.585-1G>A rs1394578008
NM_002485.5(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.995-2A>C rs876659521
NM_002485.5(NBN):c.995-2A>G rs876659521

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