ClinVar Miner

List of variants in gene NEBL reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
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.827T>C (p.Met276Thr) rs141285752 0.00033
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
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.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_006393.3(NEBL):c.2344A>G (p.Met782Val) rs200574474 0.00010
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile) rs191012363 0.00009
NM_213569.2(NEBL):c.305C>T (p.Thr102Met) rs377492976 0.00009
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val) rs144402571 0.00007
NM_006393.3(NEBL):c.2848A>G (p.Met950Val) rs201838351 0.00007
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr) rs754884291 0.00006
NM_006393.3(NEBL):c.1870G>C (p.Val624Leu) rs186851083 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys) rs189440246 0.00006
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.1667G>C (p.Ser556Thr) rs373244101 0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307 0.00004
NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys) rs778658096 0.00004
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu) rs771905060 0.00004
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr) rs375197621 0.00004
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu) rs770107953 0.00004
NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg) rs768402237 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly) rs778861859 0.00004
NM_006393.3(NEBL):c.2401G>A (p.Val801Met) rs772136984 0.00003
NM_006393.3(NEBL):c.2841G>A (p.Met947Ile) rs745574506 0.00003
NM_006393.3(NEBL):c.1110A>C (p.Gln370His) rs1267119039 0.00002
NM_006393.3(NEBL):c.1279C>T (p.Leu427Phe) rs770142870 0.00002
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu) rs777445403 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006393.3(NEBL):c.2310G>A (p.Met770Ile) rs200334335 0.00002
NM_006393.3(NEBL):c.2645G>A (p.Arg882Gln) rs758877499 0.00002
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp) rs368491819 0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336 0.00002
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter) rs748781067 0.00002
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg) rs771769135 0.00001
NM_006393.3(NEBL):c.1130A>G (p.Glu377Gly) rs373129570 0.00001
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr) rs766378863 0.00001
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys) rs535927510 0.00001
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr) rs761169055 0.00001
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) rs1207801626 0.00001
NM_006393.3(NEBL):c.157C>T (p.Arg53Cys) rs759216770 0.00001
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) rs794729078 0.00001
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu) rs534382445 0.00001
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser) rs772963438 0.00001
NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln) rs774294999 0.00001
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr) rs772956028 0.00001
NM_006393.3(NEBL):c.2297A>T (p.Asp766Val) rs1479921102 0.00001
NM_006393.3(NEBL):c.2308A>G (p.Met770Val) rs745738658 0.00001
NM_006393.3(NEBL):c.2602A>G (p.Met868Val) rs908360300 0.00001
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser) rs756192561 0.00001
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys) rs1554769095 0.00001
NM_006393.3(NEBL):c.463A>G (p.Asn155Asp) rs1344682606 0.00001
NM_006393.3(NEBL):c.686T>C (p.Ile229Thr) rs774523404 0.00001
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser) rs773469997 0.00001
NM_006393.3(NEBL):c.986G>T (p.Gly329Val) rs776185255 0.00001
NM_006393.3(NEBL):c.1033A>G (p.Lys345Glu)
NM_006393.3(NEBL):c.1067A>G (p.Glu356Gly)
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu) rs747086170
NM_006393.3(NEBL):c.1099C>G (p.Gln367Glu)
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
NM_006393.3(NEBL):c.1198G>A (p.Val400Ile)
NM_006393.3(NEBL):c.1216C>T (p.Leu406Phe)
NM_006393.3(NEBL):c.1225G>C (p.Glu409Gln)
NM_006393.3(NEBL):c.1232A>C (p.Glu411Ala)
NM_006393.3(NEBL):c.1234T>A (p.Tyr412Asn)
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
NM_006393.3(NEBL):c.1250A>G (p.Glu417Gly)
NM_006393.3(NEBL):c.1252A>G (p.Asn418Asp)
NM_006393.3(NEBL):c.1279C>G (p.Leu427Val)
NM_006393.3(NEBL):c.1307G>A (p.Arg436Lys)
NM_006393.3(NEBL):c.1319C>A (p.Ala440Asp)
NM_006393.3(NEBL):c.1348A>C (p.Lys450Gln)
NM_006393.3(NEBL):c.137C>T (p.Thr46Met)
NM_006393.3(NEBL):c.1442C>A (p.Ala481Glu)
NM_006393.3(NEBL):c.1447G>A (p.Glu483Lys)
NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys)
NM_006393.3(NEBL):c.1460A>G (p.Lys487Arg)
NM_006393.3(NEBL):c.1461A>C (p.Lys487Asn)
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val)
NM_006393.3(NEBL):c.1481T>G (p.Ile494Ser)
NM_006393.3(NEBL):c.1517T>C (p.Leu506Pro)
NM_006393.3(NEBL):c.1526A>G (p.Gln509Arg)
NM_006393.3(NEBL):c.152A>T (p.Asp51Val)
NM_006393.3(NEBL):c.154A>G (p.Ile52Val)
NM_006393.3(NEBL):c.1580T>C (p.Leu527Ser)
NM_006393.3(NEBL):c.1608G>A (p.Met536Ile)
NM_006393.3(NEBL):c.1612G>T (p.Val538Leu)
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1640G>C (p.Arg547Pro)
NM_006393.3(NEBL):c.1670A>T (p.Gln557Leu)
NM_006393.3(NEBL):c.169G>C (p.Glu57Gln)
NM_006393.3(NEBL):c.1712A>G (p.Tyr571Cys)
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
NM_006393.3(NEBL):c.1767C>G (p.Asn589Lys)
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1831A>G (p.Ile611Val)
NM_006393.3(NEBL):c.187G>A (p.Asp63Asn)
NM_006393.3(NEBL):c.1895A>G (p.His632Arg)
NM_006393.3(NEBL):c.1942A>C (p.Asn648His)
NM_006393.3(NEBL):c.1961A>G (p.Asn654Ser)
NM_006393.3(NEBL):c.1976A>G (p.Glu659Gly)
NM_006393.3(NEBL):c.1983C>G (p.Asn661Lys)
NM_006393.3(NEBL):c.1994C>T (p.Thr665Ile)
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp) rs1427758049
NM_006393.3(NEBL):c.2225A>C (p.Gln742Pro)
NM_006393.3(NEBL):c.2267A>C (p.Gln756Pro)
NM_006393.3(NEBL):c.2273A>G (p.Lys758Arg)
NM_006393.3(NEBL):c.2281C>G (p.Pro761Ala)
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
NM_006393.3(NEBL):c.2344A>T (p.Met782Leu)
NM_006393.3(NEBL):c.2386G>A (p.Gly796Ser)
NM_006393.3(NEBL):c.2395C>G (p.Pro799Ala)
NM_006393.3(NEBL):c.23A>G (p.Asp8Gly)
NM_006393.3(NEBL):c.2401G>C (p.Val801Leu)
NM_006393.3(NEBL):c.2424A>C (p.Arg808Ser)
NM_006393.3(NEBL):c.2467G>A (p.Gly823Arg)
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.2503C>A (p.Pro835Thr)
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
NM_006393.3(NEBL):c.2515G>A (p.Val839Ile)
NM_006393.3(NEBL):c.2563G>T (p.Asp855Tyr)
NM_006393.3(NEBL):c.2591G>C (p.Arg864Thr)
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
NM_006393.3(NEBL):c.2614A>G (p.Lys872Glu)
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
NM_006393.3(NEBL):c.2660G>C (p.Ser887Thr)
NM_006393.3(NEBL):c.2680G>A (p.Gly894Arg)
NM_006393.3(NEBL):c.2684A>C (p.Asp895Ala)
NM_006393.3(NEBL):c.2699T>A (p.Ile900Asn)
NM_006393.3(NEBL):c.272G>A (p.Gly91Asp)
NM_006393.3(NEBL):c.2785C>G (p.Gln929Glu)
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys) rs1024719266
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
NM_006393.3(NEBL):c.2903A>G (p.Gln968Arg)
NM_006393.3(NEBL):c.2944G>A (p.Val982Ile)
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
NM_006393.3(NEBL):c.299C>A (p.Ser100Tyr)
NM_006393.3(NEBL):c.3020C>A (p.Ala1007Glu)
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys) rs375208825
NM_006393.3(NEBL):c.3036T>G (p.Phe1012Leu)
NM_006393.3(NEBL):c.347A>C (p.Glu116Ala)
NM_006393.3(NEBL):c.352A>T (p.Thr118Ser)
NM_006393.3(NEBL):c.424A>G (p.Met142Val)
NM_006393.3(NEBL):c.470A>T (p.His157Leu)
NM_006393.3(NEBL):c.471C>G (p.His157Gln)
NM_006393.3(NEBL):c.476G>A (p.Ser159Asn)
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) rs371105861
NM_006393.3(NEBL):c.521G>C (p.Ser174Thr)
NM_006393.3(NEBL):c.55G>C (p.Gly19Arg)
NM_006393.3(NEBL):c.607A>T (p.Ile203Leu)
NM_006393.3(NEBL):c.611T>C (p.Met204Thr)
NM_006393.3(NEBL):c.640C>A (p.Pro214Thr)
NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
NM_006393.3(NEBL):c.655G>A (p.Ala219Thr)
NM_006393.3(NEBL):c.658G>T (p.Val220Leu) rs571563897
NM_006393.3(NEBL):c.718A>G (p.Lys240Glu)
NM_006393.3(NEBL):c.791C>T (p.Ala264Val) rs548922223
NM_006393.3(NEBL):c.826A>G (p.Met276Val) rs1373986579
NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
NM_006393.3(NEBL):c.846T>G (p.Asp282Glu)
NM_006393.3(NEBL):c.863T>A (p.Phe288Tyr)
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
NM_006393.3(NEBL):c.971A>G (p.His324Arg)
NM_006393.3(NEBL):c.976C>A (p.His326Asn)
NM_006393.3(NEBL):c.997C>T (p.Leu333Phe)
NM_213569.2(NEBL):c.31G>C (p.Val11Leu)

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