ClinVar Miner

List of variants reported as likely benign for Microcephaly, normal intelligence and immunodeficiency by Mendelics

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Total variants: 12
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HGVS dbSNP
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.1198G>A (p.Ala400Thr) rs551602980
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1902T>G (p.Ala634=) rs876660052
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.584+7T>A rs1057523869
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)
NM_002485.5(NBN):c.320+40G>T

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