ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.*4T>A rs727504947
NM_006393.3(NEBL):c.1008+15G>A rs375728589
NM_006393.3(NEBL):c.1008+4C>T rs71534253
NM_006393.3(NEBL):c.1008+5A>G rs703089
NM_006393.3(NEBL):c.1008+8C>G rs376842299
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369
NM_006393.3(NEBL):c.1117-6T>G rs71578938
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203
NM_006393.3(NEBL):c.1228-7C>T rs200231082
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1272A>G (p.Gly424=) rs727504866
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717
NM_006393.3(NEBL):c.1449+14G>A rs373699154
NM_006393.3(NEBL):c.1450-9T>G rs45628140
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.153+15T>G rs397517204
NM_006393.3(NEBL):c.154-11C>A rs41277376
NM_006393.3(NEBL):c.1671+9T>C rs10491056
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374
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.1861A>G (p.Ile621Val) rs79718972
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val) rs727503335
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166
NM_006393.3(NEBL):c.1962+7A>G rs371630900
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728
NM_006393.3(NEBL):c.1963-13C>T rs727504904
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.2031G>A (p.Arg677=) rs1006363
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2056-13T>G rs727504473
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) rs74120667
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.2149-5G>A rs71578956
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937
NM_006393.3(NEBL):c.2346+6G>A rs201822024
NM_006393.3(NEBL):c.2347-9C>T rs750957531
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765
NM_006393.3(NEBL):c.240C>T (p.Ile80=) rs727503337
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273
NM_006393.3(NEBL):c.2445G>A (p.Val815=) rs578252294
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021
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.2547C>T (p.Gly849=) rs180850975
NM_006393.3(NEBL):c.255T>C (p.Ser85=) rs727504471
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.259-16dup rs57918610
NM_006393.3(NEBL):c.259-8del rs57918610
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663
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.2685C>T (p.Asp895=) rs140245727
NM_006393.3(NEBL):c.2748G>T (p.Pro916=) rs778128527
NM_006393.3(NEBL):c.2761+15C>T rs760162209
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614
NM_006393.3(NEBL):c.369+5G>A rs200249470
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.480+11G>A rs769167750
NM_006393.3(NEBL):c.480+3A>G rs71578983
NM_006393.3(NEBL):c.489T>C (p.Tyr163=) rs141153708
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338
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.624C>T (p.Pro208=) rs111854914
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser) rs142138590
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290
NM_006393.3(NEBL):c.82-4A>G rs368268112
NM_006393.3(NEBL):c.903+1G>T rs775057540
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045
NM_213569.2(NEBL):c.-7C>T rs141707642
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340
NM_213569.2(NEBL):c.165-6C>G rs201869237
NM_213569.2(NEBL):c.204A>T (p.Thr68=) rs563150056
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.357T>C (p.Asn119=) rs115708584
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
NM_213569.2(NEBL):c.69+15G>T rs377648518
NM_213569.2(NEBL):c.70-18dup rs11413698

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