ClinVar Miner

List of variants in gene NEB reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889 0.00237
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692 0.00111
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00069
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 0.00035
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00019
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 0.00017
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988 0.00016
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met) rs374961597 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His) rs376932516 0.00011
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys) rs374390581 0.00010
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137 0.00008
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.12074G>T (p.Ser4025Ile) rs767858255 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175 0.00006
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys) rs751938843 0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met) rs757505325 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 0.00004
NM_001164508.2(NEB):c.7549A>G (p.Met2517Val) rs577856870 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr) rs201614105 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 0.00003
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg) rs760552939 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His) rs534531948 0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 0.00003
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn) rs267598926 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val) rs761174573 0.00002
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His) rs748607410 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.18622C>G (p.Leu6208Val) rs374727099 0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562 0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp) rs573036942 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.10993C>T (p.Arg3665Cys) rs766254214 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu) rs776095941 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19363C>T (p.Pro6455Ser) rs377112785 0.00001
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala) rs1043417027 0.00001
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu) rs1419430871 0.00001
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met) rs1404806019 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu) rs375155384 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp) rs369533357 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6526T>G (p.Tyr2176Asp) rs776624491 0.00001
NM_001164508.2(NEB):c.6565G>A (p.Val2189Met) rs1188389782 0.00001
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly) rs756396449 0.00001
NM_001164508.2(NEB):c.966G>T (p.Gln322His) rs757803976 0.00001
NM_001164508.2(NEB):c.998A>G (p.Tyr333Cys) rs775367325 0.00001
NM_001164508.2(NEB):c.10330G>A (p.Ala3444Thr)
NM_001164508.2(NEB):c.10514C>T (p.Ala3505Val)
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
NM_001164508.2(NEB):c.10711A>G (p.Arg3571Gly)
NM_001164508.2(NEB):c.10939G>T (p.Val3647Phe)
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
NM_001164508.2(NEB):c.11087C>A (p.Thr3696Asn)
NM_001164508.2(NEB):c.11188T>A (p.Tyr3730Asn)
NM_001164508.2(NEB):c.11311C>T (p.Arg3771Cys)
NM_001164508.2(NEB):c.11381A>G (p.His3794Arg)
NM_001164508.2(NEB):c.11487G>C (p.Lys3829Asn)
NM_001164508.2(NEB):c.11495T>A (p.Ile3832Asn)
NM_001164508.2(NEB):c.11544C>G (p.Cys3848Trp)
NM_001164508.2(NEB):c.11606T>C (p.Ile3869Thr)
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
NM_001164508.2(NEB):c.11770G>A (p.Val3924Ile)
NM_001164508.2(NEB):c.1191G>C (p.Lys397Asn)
NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)
NM_001164508.2(NEB):c.12042G>T (p.Glu4014Asp)
NM_001164508.2(NEB):c.12089C>T (p.Pro4030Leu)
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser) rs973939120
NM_001164508.2(NEB):c.12193T>A (p.Leu4065Ile)
NM_001164508.2(NEB):c.12327T>A (p.Ser4109Arg)
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu) rs2099604411
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.1453C>G (p.Leu485Val)
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.1634C>G (p.Ala545Gly)
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
NM_001164508.2(NEB):c.17659G>A (p.Ala5887Thr)
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.17810T>C (p.Val5937Ala)
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18550G>C (p.Ala6184Pro)
NM_001164508.2(NEB):c.18599A>G (p.Tyr6200Cys)
NM_001164508.2(NEB):c.18745A>G (p.Asn6249Asp)
NM_001164508.2(NEB):c.18746A>T (p.Asn6249Ile)
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001164508.2(NEB):c.20015A>G (p.Lys6672Arg)
NM_001164508.2(NEB):c.20137G>C (p.Val6713Leu)
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu) rs767593840
NM_001164508.2(NEB):c.20341C>T (p.Arg6781Cys)
NM_001164508.2(NEB):c.20425A>G (p.Thr6809Ala)
NM_001164508.2(NEB):c.20795A>G (p.Tyr6932Cys)
NM_001164508.2(NEB):c.21127T>G (p.Trp7043Gly)
NM_001164508.2(NEB):c.21152C>T (p.Ala7051Val)
NM_001164508.2(NEB):c.21167A>G (p.Asp7056Gly)
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.2202G>C (p.Gln734His)
NM_001164508.2(NEB):c.2343G>C (p.Lys781Asn)
NM_001164508.2(NEB):c.2896T>A (p.Ser966Thr)
NM_001164508.2(NEB):c.3124G>T (p.Val1042Phe)
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3332T>C (p.Leu1111Pro)
NM_001164508.2(NEB):c.3368A>T (p.Asp1123Val)
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3548T>C (p.Met1183Thr)
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr) rs1308063415
NM_001164508.2(NEB):c.3968C>T (p.Ser1323Leu)
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
NM_001164508.2(NEB):c.4075A>G (p.Met1359Val)
NM_001164508.2(NEB):c.4128C>A (p.Asn1376Lys)
NM_001164508.2(NEB):c.4161G>A (p.Met1387Ile)
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.4477G>C (p.Ala1493Pro)
NM_001164508.2(NEB):c.455A>G (p.Glu152Gly)
NM_001164508.2(NEB):c.4605G>T (p.Met1535Ile)
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4950A>T (p.Arg1650Ser)
NM_001164508.2(NEB):c.4973T>A (p.Leu1658His)
NM_001164508.2(NEB):c.5023C>G (p.Gln1675Glu)
NM_001164508.2(NEB):c.5057A>G (p.Asn1686Ser)
NM_001164508.2(NEB):c.5075G>T (p.Gly1692Val)
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser) rs374677022
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser) rs2099173290
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn) rs2099172820
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val) rs2099170735
NM_001164508.2(NEB):c.5751G>C (p.Gln1917His)
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu) rs2154169026
NM_001164508.2(NEB):c.5850A>C (p.Lys1950Asn)
NM_001164508.2(NEB):c.5881C>T (p.Arg1961Cys)
NM_001164508.2(NEB):c.5940G>T (p.Leu1980Phe)
NM_001164508.2(NEB):c.6115G>A (p.Gly2039Ser)
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6623C>T (p.Pro2208Leu)
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001164508.2(NEB):c.6755C>T (p.Pro2252Leu)
NM_001164508.2(NEB):c.6759T>G (p.Asp2253Glu)
NM_001164508.2(NEB):c.6769A>G (p.Ile2257Val)
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn) rs2099075647
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
NM_001164508.2(NEB):c.7096G>C (p.Val2366Leu)
NM_001164508.2(NEB):c.7258A>G (p.Arg2420Gly) rs2099017254
NM_001164508.2(NEB):c.7282G>A (p.Gly2428Ser)
NM_001164508.2(NEB):c.7388T>C (p.Met2463Thr)
NM_001164508.2(NEB):c.7604C>A (p.Pro2535Gln)
NM_001164508.2(NEB):c.7621G>A (p.Ala2541Thr)
NM_001164508.2(NEB):c.7726T>C (p.Trp2576Arg)
NM_001164508.2(NEB):c.7744A>G (p.Lys2582Glu)
NM_001164508.2(NEB):c.801A>C (p.Lys267Asn)
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu) rs549227905
NM_001164508.2(NEB):c.8090T>C (p.Phe2697Ser)
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe) rs949616238
NM_001164508.2(NEB):c.8588G>A (p.Ser2863Asn)
NM_001164508.2(NEB):c.8626T>C (p.Cys2876Arg)
NM_001164508.2(NEB):c.8669A>G (p.Tyr2890Cys)
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8832T>A (p.Ser2944Arg)
NM_001164508.2(NEB):c.902G>A (p.Arg301Lys)
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
NM_001164508.2(NEB):c.9872A>T (p.His3291Leu)

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