ClinVar Miner

List of variants in gene NEB reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649 0.00114
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692 0.00111
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=) rs200624735 0.00101
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=) rs375543045 0.00088
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001164508.2(NEB):c.2416-6G>T rs185433570 0.00069
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00061
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001164508.2(NEB):c.9820G>A (p.Val3274Ile) rs201288341 0.00040
NM_001164508.2(NEB):c.4299+7A>G rs373926259 0.00038
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=) rs376199241 0.00025
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.17061C>G (p.Val5687=) rs199756204 0.00018
NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met) rs370994522 0.00017
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.8799T>C (p.Tyr2933=) rs375997049 0.00013
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys) rs368965372 0.00012
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.105G>A (p.Thr35=) rs368075131 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.16875C>T (p.Val5625=) rs757882235 0.00007
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.218G>A (p.Arg73Gln) rs727504037 0.00004
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00003
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His) rs534531948 0.00003
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=) rs886042654 0.00003
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp) rs886044641 0.00003
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu) rs369374856 0.00003
NM_001164508.2(NEB):c.7917T>C (p.Asp2639=) rs745410848 0.00003
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.8328C>T (p.Ala2776=) rs373449008 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001164508.2(NEB):c.16824G>C (p.Thr5608=) rs531949723 0.00001
NM_001164508.2(NEB):c.19363C>T (p.Pro6455Ser) rs377112785 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser) rs776901478 0.00001
NM_001164508.2(NEB):c.966G>T (p.Gln322His) rs757803976 0.00001
NM_001164508.2(NEB):c.11982C>A (p.Ile3994=) rs780157705
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001164508.2(NEB):c.15363G>C (p.Arg5121Ser) rs1553847636
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001164508.2(NEB):c.15633C>G (p.His5211Gln) rs1560220725
NM_001164508.2(NEB):c.15882C>T (p.Asp5294=) rs1553845691
NM_001164508.2(NEB):c.16396C>G (p.Leu5466Val) rs1394442771
NM_001164508.2(NEB):c.1748T>C (p.Leu583Pro) rs794727227
NM_001164508.2(NEB):c.17588G>C (p.Arg5863Thr) rs727504032
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly) rs768965998
NM_001164508.2(NEB):c.20296G>T (p.Gly6766Cys) rs886042143
NM_001164508.2(NEB):c.21229G>A (p.Glu7077Lys) rs886042384
NM_001164508.2(NEB):c.2166A>C (p.Ile722=) rs886042140
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.328G>A (p.Gly110Arg) rs886043647
NM_001164508.2(NEB):c.3461A>T (p.Asp1154Val) rs727504036
NM_001164508.2(NEB):c.3589AAC[1] (p.Asn1198del) rs886042521
NM_001164508.2(NEB):c.4018A>C (p.Lys1340Gln) rs398124171
NM_001164508.2(NEB):c.492G>T (p.Ser164=) rs371015050
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001164508.2(NEB):c.7335G>C (p.Lys2445Asn) rs886043134
NM_001164508.2(NEB):c.7748T>C (p.Ile2583Thr) rs886042764
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001164508.2(NEB):c.9576A>G (p.Leu3192=) rs779042130
NM_001164508.2(NEB):c.9831+4A>G rs727504035

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