ClinVar Miner

List of variants in gene NEBL reported as uncertain significance by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg) rs727504620
NM_006393.3(NEBL):c.14T>C (p.Val5Ala) rs145770601
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val) rs727503335
NM_006393.3(NEBL):c.1963-13C>T rs727504904
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.2056-13T>G rs727504473
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104
NM_006393.3(NEBL):c.2148+4T>C rs193163659
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937
NM_006393.3(NEBL):c.2346+6G>A rs201822024
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273
NM_006393.3(NEBL):c.2485G>A (p.Val829Met) rs727504979
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.258+1G>A rs139581346
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) rs150152361
NM_006393.3(NEBL):c.259-13T>G rs923819811
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926
NM_006393.3(NEBL):c.369+5G>A rs200249470
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser) rs142138590
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290
NM_006393.3(NEBL):c.903+1G>T rs775057540
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340
NM_213569.2(NEBL):c.165-6C>G rs201869237
NM_213569.2(NEBL):c.250-10T>G rs727503339
NM_213569.2(NEBL):c.357+64670_357+64671del rs762005342
NM_213569.2(NEBL):c.357+64674G>T
NM_213569.2(NEBL):c.358-18310del rs727504917
NM_213569.2(NEBL):c.358-22580C>T
NM_213569.2(NEBL):c.65A>T (p.Asp22Val) rs727503341

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