ClinVar Miner

List of variants in gene NEB reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.6808-11T>C rs199804593 0.00106
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316 0.00074
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp) rs77994592 0.00065
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00063
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn) rs756192566 0.00055
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00053
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00048
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647 0.00048
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778 0.00045
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00040
NM_001164508.2(NEB):c.9820G>A (p.Val3274Ile) rs201288341 0.00040
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 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.5411C>A (p.Ala1804Glu) rs78420579 0.00028
NM_001164508.2(NEB):c.2049C>G (p.Gly683=) rs372609682 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
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.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00017
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val) rs375646776 0.00016
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988 0.00016
NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met) rs370994522 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707 0.00016
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
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.7778T>C (p.Phe2593Ser) rs370615288 0.00015
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn) rs562175196 0.00014
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00014
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.16856T>C (p.Val5619Ala) rs746575438 0.00013
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00013
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn) rs780626863 0.00012
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00011
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016 0.00011
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys) rs368965372 0.00011
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His) rs777939660 0.00010
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys) rs374390581 0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile) rs370695020 0.00009
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001164508.2(NEB):c.20447G>A (p.Arg6816Gln) rs199875722 0.00007
NM_001164508.2(NEB):c.3527A>G (p.Asp1176Gly) rs199511221 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.17519C>T (p.Ala5840Val) rs539856643 0.00006
NM_001164508.2(NEB):c.18694-7A>T rs373371474 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu) rs373246130 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00006
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 0.00005
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587 0.00005
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg) rs761955993 0.00005
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val) rs79205344 0.00005
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00005
NM_001164508.2(NEB):c.4186G>T (p.Ala1396Ser) rs759709450 0.00005
NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys) rs950759807 0.00005
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00005
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844 0.00005
NM_001164508.2(NEB):c.6613C>T (p.Arg2205Cys) rs577410545 0.00005
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00005
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys) rs374471394 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.11423T>C (p.Phe3808Ser) rs201416685 0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162 0.00004
NM_001164508.2(NEB):c.17113A>G (p.Ser5705Gly) rs777639198 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5161G>A (p.Glu1721Lys) rs750732565 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala) rs764064217 0.00004
NM_001164508.2(NEB):c.6248A>G (p.Asp2083Gly) rs368626849 0.00004
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn) rs767512294 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.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00003
NM_001164508.2(NEB):c.15975+4C>T rs2097157524 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00003
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724 0.00003
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.2657A>C (p.Tyr886Ser) rs371105660 0.00003
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly) rs773587392 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.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.926C>T (p.Thr309Ile) rs762215688 0.00003
NM_001164508.2(NEB):c.9539C>T (p.Pro3180Leu) rs764372069 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001164508.2(NEB):c.9847G>A (p.Gly3283Ser) rs769578834 0.00003
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His) rs373385805 0.00002
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501 0.00002
NM_001164508.2(NEB):c.17165G>A (p.Gly5722Asp) rs780030963 0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn) rs374867405 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870 0.00002
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863 0.00002
NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys) rs769725005 0.00002
NM_001164508.2(NEB):c.5704A>G (p.Met1902Val) rs746809883 0.00002
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192 0.00002
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 0.00001
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys) rs370189384 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg) rs199683595 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1610G>A (p.Cys537Tyr) rs935982815 0.00001
NM_001164508.2(NEB):c.16948A>G (p.Ile5650Val) rs1386459733 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.17634+5G>A rs749700121 0.00001
NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile) rs79562044 0.00001
NM_001164508.2(NEB):c.17878G>T (p.Gly5960Cys) rs1055815976 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.18048G>C (p.Gln6016His) rs1014679160 0.00001
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774 0.00001
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val) rs749383803 0.00001
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His) rs921387109 0.00001
NM_001164508.2(NEB):c.1928A>G (p.Lys643Arg) rs779280272 0.00001
NM_001164508.2(NEB):c.19699C>A (p.His6567Asn) rs886054933 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.2011G>C (p.Asp671His) rs1465339572 0.00001
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629 0.00001
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu) rs767593840 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.2402A>G (p.Tyr801Cys) rs761589107 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn) rs2099400725 0.00001
NM_001164508.2(NEB):c.3260A>G (p.Gln1087Arg) rs753378097 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.3995A>G (p.Tyr1332Cys) rs770929631 0.00001
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5622C>T (p.Asp1874=) rs1211262994 0.00001
NM_001164508.2(NEB):c.5651C>T (p.Ser1884Phe) rs780988604 0.00001
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.6276A>T (p.Gln2092His) rs2099085536 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.6565G>A (p.Val2189Met) rs1188389782 0.00001
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser) rs1369530664 0.00001
NM_001164508.2(NEB):c.6775C>A (p.Gln2259Lys) rs773605767 0.00001
NM_001164508.2(NEB):c.7123T>C (p.Leu2375=) rs373895191 0.00001
NM_001164508.2(NEB):c.7144A>C (p.Lys2382Gln) rs764757576 0.00001
NM_001164508.2(NEB):c.7289T>C (p.Leu2430Ser) rs763683012 0.00001
NM_001164508.2(NEB):c.7351C>T (p.Pro2451Ser) rs1443692678 0.00001
NM_001164508.2(NEB):c.7378C>T (p.Pro2460Ser) rs1360504212 0.00001
NM_001164508.2(NEB):c.7390G>A (p.Asp2464Asn) rs752379641 0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr) rs571451076 0.00001
NM_001164508.2(NEB):c.7621G>A (p.Ala2541Thr) rs756001738 0.00001
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu) rs764471883 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp) rs747546709 0.00001
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala) rs1414164577 0.00001
NM_001164508.2(NEB):c.8942C>G (p.Pro2981Arg) rs1043986745 0.00001
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452 0.00001
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys) rs1335899216 0.00001
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys) rs2154058460
NM_001164508.2(NEB):c.10587A>T (p.Lys3529Asn)
NM_001164508.2(NEB):c.10597CAC[3] (p.His3534dup) rs2154022798
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn) rs776058092
NM_001164508.2(NEB):c.11266G>C (p.Ala3756Pro) rs1232186045
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly) rs2098007899
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly) rs1188050770
NM_001164508.2(NEB):c.12106A>G (p.Ile4036Val) rs2153972081
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu) rs1257852959
NM_001164508.2(NEB):c.12309G>C (p.Lys4103Asn)
NM_001164508.2(NEB):c.12C>G (p.Asp4Glu) rs117178114
NM_001164508.2(NEB):c.13411T>A (p.Tyr4471Asn) rs1057521720
NM_001164508.2(NEB):c.13528C>T (p.Arg4510Cys)
NM_001164508.2(NEB):c.14605C>T (p.Gln4869Ter) rs2097324109
NM_001164508.2(NEB):c.1570T>A (p.Leu524Ile) rs1286428979
NM_001164508.2(NEB):c.16721A>G (p.Asp5574Gly) rs2153808865
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser) rs1022255644
NM_001164508.2(NEB):c.17430+6T>A rs916991200
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.17749G>A (p.Glu5917Lys) rs2552194244
NM_001164508.2(NEB):c.17972A>G (p.Glu5991Gly)
NM_001164508.2(NEB):c.18870C>A (p.Asn6290Lys) rs200122580
NM_001164508.2(NEB):c.18902A>C (p.Lys6301Thr)
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys) rs968608271
NM_001164508.2(NEB):c.19075G>A (p.Val6359Ile)
NM_001164508.2(NEB):c.19358C>G (p.Thr6453Arg) rs370810654
NM_001164508.2(NEB):c.19667G>C (p.Gly6556Ala)
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20360_20365delinsTCAGTA (p.Thr6787_Asp6789delinsIleSerAsn) rs2552178660
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser) rs2552174467
NM_001164508.2(NEB):c.20537A>G (p.Glu6846Gly) rs749302235
NM_001164508.2(NEB):c.20577+2dup rs2153603722
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001164508.2(NEB):c.20672T>G (p.Leu6891Arg)
NM_001164508.2(NEB):c.20677A>G (p.Ser6893Gly)
NM_001164508.2(NEB):c.206G>A (p.Arg69Lys) rs1299743556
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val) rs2093930817
NM_001164508.2(NEB):c.20872G>T (p.Ala6958Ser)
NM_001164508.2(NEB):c.21070C>T (p.His7024Tyr) rs1232305282
NM_001164508.2(NEB):c.2335G>A (p.Gly779Ser) rs1390236645
NM_001164508.2(NEB):c.2434T>A (p.Trp812Arg)
NM_001164508.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001164508.2(NEB):c.2782C>G (p.Pro928Ala) rs770678983
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn) rs549231016
NM_001164508.2(NEB):c.3136A>T (p.Asn1046Tyr) rs200564629
NM_001164508.2(NEB):c.3488A>C (p.His1163Pro) rs199822924
NM_001164508.2(NEB):c.349A>G (p.Thr117Ala)
NM_001164508.2(NEB):c.3589AAC[1] (p.Asn1198del) rs886042521
NM_001164508.2(NEB):c.3884G>A (p.Cys1295Tyr) rs2154198219
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4161G>A (p.Met1387Ile) rs2099313159
NM_001164508.2(NEB):c.4208_4209delinsAA (p.Val1403Glu) rs2552260603
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.4464G>C (p.Met1488Ile) rs368215104
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.5032A>C (p.Asn1678His) rs2552257877
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5714A>G (p.Asp1905Gly) rs2154172277
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr) rs758655350
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg) rs2099105851
NM_001164508.2(NEB):c.6086A>G (p.Lys2029Arg)
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6248A>T (p.Asp2083Val) rs368626849
NM_001164508.2(NEB):c.6296A>T (p.Asp2099Val) rs2154149108
NM_001164508.2(NEB):c.6922_6928delinsAACAAAA (p.Tyr2308_Gln2310delinsAsnLysLys) rs2552249999
NM_001164508.2(NEB):c.7187A>G (p.Asp2396Gly)
NM_001164508.2(NEB):c.7234T>A (p.Tyr2412Asn)
NM_001164508.2(NEB):c.7309C>G (p.Arg2437Gly) rs375164626
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His) rs1160496287
NM_001164508.2(NEB):c.7379C>T (p.Pro2460Leu) rs2099016244
NM_001164508.2(NEB):c.739G>T (p.Ala247Ser)
NM_001164508.2(NEB):c.7432-3T>A
NM_001164508.2(NEB):c.7438T>C (p.Tyr2480His) rs779975891
NM_001164508.2(NEB):c.7974C>G (p.Asp2658Glu)
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile) rs763429938
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.9131A>G (p.Gln3044Arg) rs2154081382
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.9546G>T (p.Lys3182Asn) rs2552238288

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