ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001024688.2(NBN):c.452_455del (p.Lys151fs) rs587780100
NM_001024688.2(NBN):c.495_496dup (p.Glu166fs) rs864309670
NM_001024688.2(NBN):c.596dup (p.Leu199fs) rs864309669
NM_001024688.2(NBN):c.654_678del (p.Gly219fs) rs1057519587
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.4(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.681del (p.Phe227fs) rs1057519586
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973

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