ClinVar Miner

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

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) rs149162847 0.00217
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001164508.2(NEB):c.10452+9A>G rs117270796 0.00190
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) rs117018177 0.00190
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072 0.00146
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 0.00005
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11077-35CT[9] rs369065019
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338

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