List of variants in gene NEBL reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_006393.3(NEBL):c.1008+5A>G	rs703089	0.98186
NM_006393.3(NEBL):c.1671+9T>C	rs10491056	0.42572
NM_006393.3(NEBL):c.2031G>A (p.Arg677=)	rs1006363	0.22278
NM_006393.3(NEBL):c.2997A>G (p.Thr999=)	rs2296614	0.08806
NM_006393.3(NEBL):c.1051A>G (p.Met351Val)	rs4025981	0.05741
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys)	rs4748728	0.05648
NM_006393.3(NEBL):c.1132G>C (p.Asp378His)	rs41277370	0.05503
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)	rs2296610	0.01104
NM_213569.2(NEBL):c.-7C>T	rs141707642	0.00974
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)	rs71535732	0.00843
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)	rs71578975	0.00786
NM_213569.2(NEBL):c.357T>C (p.Asn119=)	rs115708584	0.00720
NM_006393.3(NEBL):c.1008+4C>T	rs71534253	0.00540
NM_006393.3(NEBL):c.1117-6T>G	rs71578938	0.00538
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)	rs79718972	0.00532
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)	rs114918858	0.00501
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)	rs41277374	0.00382
NM_006393.3(NEBL):c.480+3A>G	rs71578983	0.00336
NM_006393.3(NEBL):c.1450-9T>G	rs45628140	0.00280
NM_006393.3(NEBL):c.2149-5G>A	rs71578956	0.00272
NM_006393.3(NEBL):c.154-11C>A	rs41277376	0.00252
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)	rs143584663	0.00245
NM_006393.3(NEBL):c.109T>C (p.Leu37=)	rs140734883	0.00213
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)	rs137973321	0.00210
NM_006393.3(NEBL):c.1869+8C>G	rs188529864	0.00188
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)	rs147622517	0.00154
NM_006393.3(NEBL):c.2685C>T (p.Asp895=)	rs140245727	0.00135
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)	rs143930021	0.00132
NM_006393.3(NEBL):c.624C>T (p.Pro208=)	rs111854914	0.00124
NM_006393.3(NEBL):c.994G>A (p.Val332Ile)	rs150518045	0.00065
NM_006393.3(NEBL):c.1008+8C>G	rs376842299	0.00054
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)	rs146218038	0.00051
NM_006393.3(NEBL):c.1962+7A>G	rs371630900	0.00036
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)	rs143644290	0.00030
NM_006393.3(NEBL):c.1449+14G>A	rs373699154	0.00022
NM_006393.3(NEBL):c.82-4A>G	rs368268112	0.00021
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)	rs200705273	0.00020
NM_006393.3(NEBL):c.14T>C (p.Val5Ala)	rs145770601	0.00019
NM_006393.3(NEBL):c.1728T>C (p.Asp576=)	rs1528182	0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)	rs146471913	0.00019
NM_006393.3(NEBL):c.369+5G>A	rs200249470	0.00019
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met)	rs202112717	0.00016
NM_006393.3(NEBL):c.258+1G>A	rs139581346	0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)	rs199887353	0.00016
NM_006393.3(NEBL):c.109_110del (p.Leu37fs)	rs762005342	0.00014
NM_006393.3(NEBL):c.240C>T (p.Ile80=)	rs727503337	0.00014
NM_006393.3(NEBL):c.480+11G>A	rs769167750	0.00014
NM_006393.3(NEBL):c.489T>C (p.Tyr163=)	rs141153708	0.00014
NM_213569.2(NEBL):c.69+15G>T	rs377648518	0.00011
NM_213569.2(NEBL):c.165-6C>G	rs201869237	0.00010
NM_006393.3(NEBL):c.120A>G (p.Glu40=)	rs397517203	0.00009
NM_006393.3(NEBL):c.259-13T>G	rs923819811	0.00008
NM_213569.2(NEBL):c.204A>T (p.Thr68=)	rs563150056	0.00008
NM_006393.3(NEBL):c.1272A>G (p.Gly424=)	rs727504866	0.00006
NM_006393.3(NEBL):c.2346+6G>A	rs201822024	0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile)	rs367986765	0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu)	rs727503338	0.00006
NM_006393.3(NEBL):c.2761+15C>T	rs760162209	0.00005
NM_006393.3(NEBL):c.1008+15G>A	rs375728589	0.00004
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)	rs146198369	0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser)	rs375569591	0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe)	rs543765307	0.00004
NM_006393.3(NEBL):c.2347-9C>T	rs750957531	0.00004
NM_006393.3(NEBL):c.2445G>A (p.Val815=)	rs578252294	0.00004
NM_006393.3(NEBL):c.561G>C (p.Gln187His)	rs75301590	0.00004
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser)	rs727503340	0.00004
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile)	rs375265257	0.00003
NM_006393.3(NEBL):c.153+15T>G	rs397517204	0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)	rs200756166	0.00003
NM_006393.3(NEBL):c.903+1G>T	rs775057540	0.00003
NM_006393.3(NEBL):c.*4T>A	rs727504947	0.00002
NM_006393.3(NEBL):c.1963-13C>T	rs727504904	0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)	rs780384504	0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter)	rs752922937	0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met)	rs727504979	0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala)	rs727503336	0.00002
NM_006393.3(NEBL):c.1228-7C>T	rs200231082	0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val)	rs1237891829	0.00001
NM_006393.3(NEBL):c.1617del (p.Ser539fs)	rs727504917	0.00001
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val)	rs727503335	0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=)	rs180850975	0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys)	rs150152361	0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu)	rs876657926	0.00001
NM_006393.3(NEBL):c.2820C>T (p.His940=)	rs532565487	0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=)	rs575423101	0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser)	rs876657927	0.00001
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys)	rs876657925
NM_006393.3(NEBL):c.1269A>G (p.Lys423=)	rs138932199
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg)	rs727504620
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)	rs146275785
NM_006393.3(NEBL):c.1963-3C>T	rs727504683
NM_006393.3(NEBL):c.2055+7C>A	rs368793318
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr)	rs397517205
NM_006393.3(NEBL):c.2475C>T (p.His825=)	rs727503334
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser)	rs727505285
NM_006393.3(NEBL):c.255T>C (p.Ser85=)	rs727504471
NM_006393.3(NEBL):c.2748G>T (p.Pro916=)	rs778128527
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)	rs139809958
NM_006393.3(NEBL):c.480+10C>A	rs377230358
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser)	rs142138590
NM_213569.2(NEBL):c.250-10T>G	rs727503339
NM_213569.2(NEBL):c.357+73449dup	rs57918610
NM_213569.2(NEBL):c.357+73457del	rs57918610
NM_213569.2(NEBL):c.65A>T (p.Asp22Val)	rs727503341
NM_213569.2(NEBL):c.70-5dup	rs11413698

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