List of variants in gene NEBL reported as likely benign by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_006393.3(NEBL):c.2997A>G (p.Thr999=)	rs2296614	0.08806
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)	rs71578975	0.00786
NM_006393.3(NEBL):c.109T>C (p.Leu37=)	rs140734883	0.00213
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.2673A>G (p.Thr891=)	rs202127185	0.00022
NM_006393.3(NEBL):c.2964C>T (p.Asp988=)	rs144946187	0.00022
NM_006393.3(NEBL):c.1728T>C (p.Asp576=)	rs1528182	0.00019
NM_006393.3(NEBL):c.2724A>T (p.Ser908=)	rs146673676	0.00019
NM_006393.3(NEBL):c.69T>C (p.Asn23=)	rs746405718	0.00019
NM_006393.3(NEBL):c.2307T>C (p.Ala769=)	rs144815863	0.00018
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)	rs199887353	0.00016
NM_006393.3(NEBL):c.240C>T (p.Ile80=)	rs727503337	0.00014
NM_006393.3(NEBL):c.120A>G (p.Glu40=)	rs397517203	0.00009
NM_006393.3(NEBL):c.2889C>T (p.Tyr963=)	rs202184399	0.00009
NM_006393.3(NEBL):c.537A>G (p.Arg179=)	rs562815398	0.00009
NM_006393.3(NEBL):c.1272A>G (p.Gly424=)	rs727504866	0.00006
NM_006393.3(NEBL):c.1878C>T (p.Tyr626=)	rs551329782	0.00006
NM_006393.3(NEBL):c.2619G>A (p.Ala873=)	rs140803920	0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu)	rs727503338	0.00006
NM_006393.3(NEBL):c.740A>G (p.Asn247Ser)	rs147901148	0.00006
NM_006393.3(NEBL):c.777T>G (p.Leu259=)	rs377624818	0.00006
NM_006393.3(NEBL):c.1077A>G (p.Ser359=)	rs776764153	0.00005
NM_006393.3(NEBL):c.2406C>T (p.Asp802=)	rs748203517	0.00005
NM_006393.3(NEBL):c.2748G>A (p.Pro916=)	rs778128527	0.00005
NM_006393.3(NEBL):c.792G>A (p.Ala264=)	rs375771045	0.00005
NM_006393.3(NEBL):c.993C>T (p.Ala331=)	rs375117092	0.00005
NM_006393.3(NEBL):c.1893A>G (p.Lys631=)	rs532807680	0.00004
NM_006393.3(NEBL):c.2013G>A (p.Pro671=)	rs781677922	0.00004
NM_006393.3(NEBL):c.2190T>C (p.Ser730=)	rs371975934	0.00004
NM_006393.3(NEBL):c.2445G>A (p.Val815=)	rs578252294	0.00004
NM_006393.3(NEBL):c.2943C>T (p.Ile981=)	rs201105598	0.00004
NM_006393.3(NEBL):c.57G>C (p.Gly19=)	rs764290131	0.00004
NM_006393.3(NEBL):c.498C>T (p.Asp166=)	rs371105861	0.00003
NM_006393.3(NEBL):c.2397C>T (p.Pro799=)	rs766216481	0.00002
NM_006393.3(NEBL):c.2757A>G (p.Glu919=)	rs878854903	0.00002
NM_006393.3(NEBL):c.1074A>G (p.Pro358=)	rs1180113998	0.00001
NM_006393.3(NEBL):c.2016G>A (p.Glu672=)	rs757626106	0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=)	rs180850975	0.00001
NM_006393.3(NEBL):c.2607C>G (p.Leu869=)	rs773544548	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.2931C>T (p.Asp977=)	rs375982678	0.00001
NM_006393.3(NEBL):c.435C>T (p.Pro145=)	rs202130632	0.00001
NM_006393.3(NEBL):c.438T>C (p.Pro146=)	rs780880217	0.00001
NM_006393.3(NEBL):c.738C>T (p.Tyr246=)	rs778455217	0.00001
NM_006393.3(NEBL):c.837A>G (p.Pro279=)	rs1211641825	0.00001
NM_006393.3(NEBL):c.972T>C (p.His324=)	rs764659096	0.00001
NM_006393.3(NEBL):c.1071A>C (p.Thr357=)
NM_006393.3(NEBL):c.1071A>G (p.Thr357=)
NM_006393.3(NEBL):c.1206C>T (p.Tyr402=)
NM_006393.3(NEBL):c.1221G>A (p.Leu407=)	rs2131006177
NM_006393.3(NEBL):c.1269A>G (p.Lys423=)	rs138932199
NM_006393.3(NEBL):c.1287A>C (p.Ser429=)
NM_006393.3(NEBL):c.1332A>C (p.Ala444=)
NM_006393.3(NEBL):c.1347C>T (p.Tyr449=)
NM_006393.3(NEBL):c.135C>T (p.Cys45=)	rs757156256
NM_006393.3(NEBL):c.1434A>G (p.Ala478=)	rs2130934253
NM_006393.3(NEBL):c.144C>T (p.Leu48=)
NM_006393.3(NEBL):c.1515T>A (p.Thr505=)
NM_006393.3(NEBL):c.1518T>C (p.Leu506=)
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
NM_006393.3(NEBL):c.158G>A (p.Arg53His)
NM_006393.3(NEBL):c.1602A>G (p.Lys534=)
NM_006393.3(NEBL):c.1644C>T (p.Ala548=)
NM_006393.3(NEBL):c.1672A>C (p.Arg558=)	rs944343501
NM_006393.3(NEBL):c.1779A>T (p.Val593=)
NM_006393.3(NEBL):c.1800A>G (p.Gly600=)
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
NM_006393.3(NEBL):c.1872G>A (p.Val624=)
NM_006393.3(NEBL):c.2010C>T (p.Thr670=)
NM_006393.3(NEBL):c.201T>C (p.Phe67=)
NM_006393.3(NEBL):c.2149G>A (p.Val717Ile)
NM_006393.3(NEBL):c.2151T>C (p.Val717=)
NM_006393.3(NEBL):c.2181C>T (p.Thr727=)
NM_006393.3(NEBL):c.2268G>A (p.Gln756=)
NM_006393.3(NEBL):c.2301A>G (p.Thr767=)
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
NM_006393.3(NEBL):c.2343A>C (p.Ser781=)
NM_006393.3(NEBL):c.2358T>C (p.His786=)
NM_006393.3(NEBL):c.2370A>G (p.Glu790=)
NM_006393.3(NEBL):c.2439C>A (p.Thr813=)	rs757884238
NM_006393.3(NEBL):c.2439C>T (p.Thr813=)
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
NM_006393.3(NEBL):c.2475C>T (p.His825=)	rs727503334
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
NM_006393.3(NEBL):c.2571G>A (p.Leu857=)
NM_006393.3(NEBL):c.2598C>T (p.Leu866=)
NM_006393.3(NEBL):c.2631G>A (p.Arg877=)
NM_006393.3(NEBL):c.2658C>T (p.Ser886=)
NM_006393.3(NEBL):c.2682A>G (p.Gly894=)	rs1334949712
NM_006393.3(NEBL):c.2691G>A (p.Arg897=)
NM_006393.3(NEBL):c.2700C>A (p.Ile900=)
NM_006393.3(NEBL):c.2796T>C (p.His932=)
NM_006393.3(NEBL):c.2847A>G (p.Ser949=)
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
NM_006393.3(NEBL):c.2985A>C (p.Thr995=)
NM_006393.3(NEBL):c.2985A>G (p.Thr995=)	rs534621300
NM_006393.3(NEBL):c.3021G>A (p.Ala1007=)
NM_006393.3(NEBL):c.519C>T (p.Tyr173=)
NM_006393.3(NEBL):c.528A>G (p.Glu176=)
NM_006393.3(NEBL):c.549G>A (p.Lys183=)
NM_006393.3(NEBL):c.675T>C (p.Leu225=)
NM_006393.3(NEBL):c.729A>G (p.Lys243=)
NM_006393.3(NEBL):c.801G>T (p.Val267=)
NM_006393.3(NEBL):c.816C>T (p.Asp272=)
NM_006393.3(NEBL):c.84C>A (p.Val28=)
NM_006393.3(NEBL):c.918G>A (p.Lys306=)
NM_006393.3(NEBL):c.966G>A (p.Val322=)

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