ClinVar Miner

List of variants reported as uncertain significance for Microcephaly, normal intelligence and immunodeficiency by Mendelics

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Total variants: 32
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HGVS dbSNP
NM_001024688.2(NBN):c.-200A>G rs1563584435
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.4(NBN):c.1471G>A (p.Glu491Lys) rs776900339
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1849G>A (p.Glu617Lys) rs766602873
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) rs730881856
NM_002485.4(NBN):c.2060A>C (p.Lys687Thr) rs186371605
NM_002485.4(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.37+2dup rs876658183
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002485.4(NBN):c.803C>T (p.Thr268Met) rs535602436
NM_002485.4(NBN):c.806G>C (p.Cys269Ser) rs768822147
NM_002485.4(NBN):c.80G>T (p.Gly27Val) rs755171159
NM_002485.4(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.4(NBN):c.929T>C (p.Ile310Thr) rs753812768
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)

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