ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP
NM_001024688.2(NBN):c.-33_-32insGGAACCGCTCGGGGCAGC rs1554568352
NM_001024688.2(NBN):c.104_106CTT[1] (p.Ser36del) rs730881841
NM_001024688.2(NBN):c.1503_1505GGA[1] (p.Glu503del) rs1554558265
NM_001024688.2(NBN):c.1783_1785GAT[1] (p.Asp596del) rs1554556498
NM_001024688.2(NBN):c.1959_1961AGA[1] (p.Glu655del) rs1554554251
NM_001024688.2(NBN):c.759_761AAC[1] (p.Thr255del) rs770500095
NM_002485.4(NBN):c.*364_*393del rs1554553737
NM_002485.4(NBN):c.104T>C (p.Ile35Thr) rs587780773
NM_002485.4(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
NM_002485.4(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.4(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.4(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.4(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.4(NBN):c.224G>C (p.Gly75Ala) rs587782179
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.4(NBN):c.260T>C (p.Phe87Ser) rs786203573
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.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.321-3C>T rs751356470
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.37+6G>C rs540868733
NM_002485.4(NBN):c.37+6G>T rs540868733
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-3C>G rs876661099
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.633T>A (p.Asp211Glu) rs377700348
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.644G>A (p.Arg215Gln) rs61753718
NM_002485.4(NBN):c.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547

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