List of variants reported as likely pathogenic for Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.481-2A>T	rs751567476	0.00001
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)	rs2129744741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	rs764884516
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	rs762664474

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