ClinVar Miner

List of variants in gene FREM2 studied for Fraser syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 372
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_207361.6(FREM2):c.5410+25T>C rs2442370 0.94938
NM_207361.6(FREM2):c.*5491G>A rs2226913 0.73809
NM_207361.6(FREM2):c.*4465C>T rs2027770 0.73599
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_207361.6(FREM2):c.*1428A>G rs9548522 0.47270
NM_207361.6(FREM2):c.*5562C>G rs1945507 0.46889
NM_207361.6(FREM2):c.*5733C>T rs1945505 0.46197
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041
NM_207361.6(FREM2):c.*342G>A rs9603463 0.35702
NM_207361.6(FREM2):c.*5899C>T rs1945504 0.28925
NM_207361.6(FREM2):c.*5542T>A rs7327529 0.26970
NM_207361.6(FREM2):c.*4770C>T rs6563648 0.26840
NM_207361.6(FREM2):c.*3481G>A rs2184141 0.26619
NM_207361.6(FREM2):c.*3192T>C rs7337135 0.26600
NM_207361.6(FREM2):c.*2926G>A rs1945508 0.26131
NM_207361.6(FREM2):c.*4560G>A rs2225623 0.26118
NM_207361.6(FREM2):c.7984-10G>A rs9532295 0.19705
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp) rs9603422 0.14074
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser) rs9548506 0.10599
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=) rs9548507 0.10596
NM_207361.6(FREM2):c.*992T>C rs9532297 0.09184
NM_207361.6(FREM2):c.*5335A>G rs9548524 0.09168
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_207361.6(FREM2):c.*1041C>T rs9548521 0.07524
NM_207361.6(FREM2):c.2602C>G (p.Leu868Val) rs7329939 0.06144
NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys) rs58363253 0.06139
NM_207361.6(FREM2):c.-260A>G rs7997838 0.05375
NM_207361.6(FREM2):c.303C>A (p.Pro101=) rs8002488 0.05332
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) rs1868463 0.05268
NM_207361.6(FREM2):c.*5612T>G rs200747289 0.03887
NM_207361.6(FREM2):c.1941C>T (p.Asp647=) rs41292751 0.02517
NM_207361.6(FREM2):c.4077T>A (p.Gly1359=) rs41292757 0.02517
NM_207361.6(FREM2):c.*5600G>T rs74793552 0.02508
NM_207361.6(FREM2):c.8226C>T (p.Ala2742=) rs17058710 0.02172
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_207361.6(FREM2):c.*1694A>G rs17443589 0.01925
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=) rs61749310 0.01827
NM_207361.6(FREM2):c.*1624G>A rs17443575 0.01664
NM_207361.6(FREM2):c.9429G>A (p.Gly3143=) rs41306662 0.01662
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_207361.6(FREM2):c.*3929G>T rs79571295 0.01542
NM_207361.6(FREM2):c.954C>G (p.Pro318=) rs9576597 0.01462
NM_207361.6(FREM2):c.*5616T>A rs570011150 0.01008
NM_207361.6(FREM2):c.*3731A>C rs41286133 0.01007
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=) rs116383837 0.00953
NM_207361.6(FREM2):c.*5019A>T rs76274648 0.00943
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met) rs74781600 0.00872
NM_207361.6(FREM2):c.*1539C>T rs41286131 0.00866
NM_207361.6(FREM2):c.-182G>A rs142232936 0.00862
NM_207361.6(FREM2):c.*5344T>G rs7327183 0.00833
NM_207361.6(FREM2):c.*1321G>A rs78527665 0.00828
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_207361.6(FREM2):c.*2375C>G rs114706463 0.00802
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_207361.6(FREM2):c.*4907C>T rs185608262 0.00754
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_207361.6(FREM2):c.*4249A>C rs116463058 0.00684
NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly) rs61742843 0.00597
NM_207361.6(FREM2):c.*1379T>C rs150619967 0.00573
NM_207361.6(FREM2):c.6330T>G (p.Leu2110=) rs112083916 0.00535
NM_207361.6(FREM2):c.6396C>T (p.Phe2132=) rs61745902 0.00525
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr) rs114798977 0.00408
NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala) rs116742938 0.00406
NM_207361.6(FREM2):c.*6265G>A rs149647289 0.00397
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile) rs116653247 0.00384
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_207361.6(FREM2):c.*2884G>T rs191748020 0.00362
NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys) rs79048205 0.00348
NM_207361.6(FREM2):c.5642-12T>C rs144415935 0.00329
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.*2428G>A rs145248293 0.00312
NM_207361.6(FREM2):c.*6289C>T rs530348914 0.00308
NM_207361.6(FREM2):c.*2266C>G rs149807035 0.00285
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg) rs76949956 0.00279
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_207361.6(FREM2):c.*1050G>A rs146348438 0.00239
NM_207361.6(FREM2):c.*3650A>G rs544403648 0.00222
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00155
NM_207361.6(FREM2):c.*1731A>G rs886050199 0.00146
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_207361.6(FREM2):c.595G>T (p.Ala199Ser) rs151296346 0.00134
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_207361.6(FREM2):c.*3645G>T rs191682286 0.00122
NM_207361.6(FREM2):c.*2159G>A rs74048236 0.00121
NM_207361.6(FREM2):c.*477T>C rs73466063 0.00119
NM_207361.6(FREM2):c.*4437A>G rs73466068 0.00118
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp) rs143571375 0.00115
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_207361.6(FREM2):c.-251A>G rs556209580 0.00096
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_207361.6(FREM2):c.8671+14A>G rs182974545 0.00088
NM_207361.6(FREM2):c.8757A>G (p.Leu2919=) rs144702001 0.00086
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_207361.6(FREM2):c.109C>T (p.Leu37Phe) rs183560588 0.00081
NM_207361.6(FREM2):c.690T>C (p.Tyr230=) rs115830086 0.00080
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_207361.6(FREM2):c.*3278C>T rs531852928 0.00073
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys) rs77886481 0.00073
NM_207361.6(FREM2):c.*1203G>C rs866103451 0.00069
NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met) rs138477887 0.00063
NM_207361.6(FREM2):c.*3136G>A rs192657481 0.00059
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_207361.6(FREM2):c.*5920C>T rs550443498 0.00055
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_207361.6(FREM2):c.*4731G>A rs554764998 0.00051
NM_207361.6(FREM2):c.4991C>T (p.Ala1664Val) rs149779771 0.00051
NM_207361.6(FREM2):c.*6183C>T rs113097228 0.00050
NM_207361.6(FREM2):c.8918A>G (p.Lys2973Arg) rs147506207 0.00047
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00046
NM_207361.6(FREM2):c.*1597A>G rs886050197 0.00045
NM_207361.6(FREM2):c.*4225A>G rs571781749 0.00039
NM_207361.6(FREM2):c.8196C>T (p.Ser2732=) rs151062281 0.00034
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu) rs200691357 0.00032
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr) rs190810317 0.00029
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) rs181564966 0.00028
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00026
NM_207361.6(FREM2):c.*6104G>A rs145810460 0.00025
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met) rs114171443 0.00022
NM_207361.6(FREM2):c.6020-13C>T rs200860319 0.00022
NM_207361.6(FREM2):c.1191C>T (p.Pro397=) rs199831729 0.00021
NM_207361.6(FREM2):c.1677G>C (p.Gln559His) rs199921323 0.00021
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00020
NM_207361.6(FREM2):c.9418A>G (p.Ser3140Gly) rs199853872 0.00020
NM_207361.6(FREM2):c.*4733T>C rs776479793 0.00019
NM_207361.6(FREM2):c.4975G>A (p.Ala1659Thr) rs114440488 0.00019
NM_207361.6(FREM2):c.*1121G>A rs139762843 0.00017
NM_207361.6(FREM2):c.1345C>G (p.Leu449Val) rs190063725 0.00016
NM_207361.6(FREM2):c.8172T>A (p.Leu2724=) rs201065518 0.00016
NM_207361.6(FREM2):c.1369C>G (p.Leu457Val) rs141900626 0.00013
NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp) rs142322683 0.00013
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_207361.6(FREM2):c.7332C>T (p.Asp2444=) rs773197293 0.00013
NM_207361.6(FREM2):c.*5869C>G rs866646570 0.00012
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00012
NM_207361.6(FREM2):c.5264-5T>G rs375059201 0.00012
NM_207361.6(FREM2):c.6669A>G (p.Gln2223=) rs114333791 0.00012
NM_207361.6(FREM2):c.3143A>G (p.Asn1048Ser) rs115192563 0.00011
NM_207361.6(FREM2):c.6273G>A (p.Ala2091=) rs769687764 0.00011
NM_207361.6(FREM2):c.*1219G>A rs886050196 0.00010
NM_207361.6(FREM2):c.*2533A>G rs560168381 0.00010
NM_207361.6(FREM2):c.5790G>A (p.Pro1930=) rs114346379 0.00010
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_207361.6(FREM2):c.4038G>A (p.Gly1346=) rs139044304 0.00009
NM_207361.6(FREM2):c.6957C>A (p.His2319Gln) rs182710790 0.00009
NM_207361.6(FREM2):c.7216-5C>T rs534318261 0.00009
NM_207361.6(FREM2):c.8160A>C (p.Pro2720=) rs200528879 0.00009
NM_207361.6(FREM2):c.9238C>T (p.Leu3080=) rs138154238 0.00009
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_207361.6(FREM2):c.5789C>T (p.Pro1930Leu) rs114524483 0.00008
NM_207361.6(FREM2):c.*660A>G rs80169494 0.00007
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NM_207361.6(FREM2):c.736G>A (p.Gly246Arg) rs547302858 0.00007
NM_207361.6(FREM2):c.*1042G>A rs757171457 0.00006
NM_207361.6(FREM2):c.*3736G>C rs886050209 0.00006
NM_207361.6(FREM2):c.*467C>T rs753396105 0.00006
NM_207361.6(FREM2):c.-244G>T rs886050182 0.00006
NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys) rs201457616 0.00006
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997 0.00006
NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys) rs140036522 0.00006
NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) rs148965852 0.00006
NM_207361.6(FREM2):c.5060A>C (p.Glu1687Ala) rs143708269 0.00006
NM_207361.6(FREM2):c.319G>A (p.Val107Ile) rs763373816 0.00005
NM_207361.6(FREM2):c.8281+10G>A rs374250366 0.00005
NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala) rs186980482 0.00005
NM_207361.6(FREM2):c.*2976A>G rs561278105 0.00004
NM_207361.6(FREM2):c.*4141T>G rs190214300 0.00004
NM_207361.6(FREM2):c.*4673C>T rs886050210 0.00004
NM_207361.6(FREM2):c.*551A>G rs181407336 0.00004
NM_207361.6(FREM2):c.*5812T>C rs1034339922 0.00004
NM_207361.6(FREM2):c.-33A>G rs368974586 0.00004
NM_207361.6(FREM2):c.1395G>A (p.Pro465=) rs181720619 0.00004
NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr) rs183068418 0.00004
NM_207361.6(FREM2):c.3644C>T (p.Ala1215Val) rs368570563 0.00004
NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys) rs138283768 0.00004
NM_207361.6(FREM2):c.383C>T (p.Pro128Leu) rs114864077 0.00004
NM_207361.6(FREM2):c.38G>A (p.Arg13Gln) rs765718616 0.00004
NM_207361.6(FREM2):c.4657C>G (p.Pro1553Ala) rs184635412 0.00004
NM_207361.6(FREM2):c.4823G>A (p.Gly1608Asp) rs767651775 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.5494C>A (p.Gln1832Lys) rs114087410 0.00004
NM_207361.6(FREM2):c.5519G>A (p.Arg1840Gln) rs201096621 0.00004
NM_207361.6(FREM2):c.632C>G (p.Pro211Arg) rs371834810 0.00004
NM_207361.6(FREM2):c.7216-15A>G rs759789024 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_207361.6(FREM2):c.*4663A>G rs554972713 0.00003
NM_207361.6(FREM2):c.*5187C>G rs556158747 0.00003
NM_207361.6(FREM2):c.*6149A>G rs183570508 0.00003
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.2207G>A (p.Arg736Gln) rs201173265 0.00003
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser) rs767098305 0.00003
NM_207361.6(FREM2):c.4768A>C (p.Met1590Leu) rs199597019 0.00003
NM_207361.6(FREM2):c.6095G>A (p.Arg2032Lys) rs780547800 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_207361.6(FREM2):c.9125A>G (p.Lys3042Arg) rs200408567 0.00003
NM_207361.6(FREM2):c.*589G>A rs546650789 0.00002
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro) rs777697719 0.00002
NM_207361.6(FREM2):c.5580C>T (p.Pro1860=) rs780872307 0.00002
NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg) rs568057756 0.00002
NM_207361.6(FREM2):c.6109C>A (p.Leu2037Met) rs539893834 0.00002
NM_207361.6(FREM2):c.6334G>A (p.Glu2112Lys) rs746057172 0.00002
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) rs1460573845 0.00002
NM_207361.6(FREM2):c.6826G>A (p.Val2276Met) rs555028352 0.00002
NM_207361.6(FREM2):c.7800C>T (p.Thr2600=) rs116030904 0.00002
NM_207361.6(FREM2):c.8451A>C (p.Pro2817=) rs201533042 0.00002
NM_207361.6(FREM2):c.*1061A>G rs886050195 0.00001
NM_207361.6(FREM2):c.*1568A>G rs1413225742 0.00001
NM_207361.6(FREM2):c.*2504T>C rs886050204 0.00001
NM_207361.6(FREM2):c.*291A>G rs886050194 0.00001
NM_207361.6(FREM2):c.*3553C>T rs1593464254 0.00001
NM_207361.6(FREM2):c.*5689C>T rs886050218 0.00001
NM_207361.6(FREM2):c.*8A>G rs886050193 0.00001
NM_207361.6(FREM2):c.1020A>G (p.Pro340=) rs150328266 0.00001
NM_207361.6(FREM2):c.1398A>G (p.Gln466=) rs772742256 0.00001
NM_207361.6(FREM2):c.2103G>A (p.Pro701=) rs117758105 0.00001
NM_207361.6(FREM2):c.2214A>G (p.Leu738=) rs533231784 0.00001
NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) rs750020230 0.00001
NM_207361.6(FREM2):c.2966C>T (p.Pro989Leu) rs756161507 0.00001
NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser) rs559654259 0.00001
NM_207361.6(FREM2):c.3139G>A (p.Gly1047Ser) rs1194030152 0.00001
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00001
NM_207361.6(FREM2):c.3517T>C (p.Phe1173Leu) rs886050188 0.00001
NM_207361.6(FREM2):c.3569A>C (p.Gln1190Pro) rs1234401702 0.00001
NM_207361.6(FREM2):c.3737C>T (p.Thr1246Met) rs201865313 0.00001
NM_207361.6(FREM2):c.4127A>G (p.Asp1376Gly) rs886050189 0.00001
NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln) rs1367167650 0.00001
NM_207361.6(FREM2):c.4255A>G (p.Ile1419Val) rs76419381 0.00001
NM_207361.6(FREM2):c.4889T>C (p.Val1630Ala) rs746466859 0.00001
NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr) rs546732114 0.00001
NM_207361.6(FREM2):c.5185G>A (p.Asp1729Asn) rs772551338 0.00001
NM_207361.6(FREM2):c.5378G>A (p.Arg1793His) rs144476070 0.00001
NM_207361.6(FREM2):c.5410+11T>A rs747849923 0.00001
NM_207361.6(FREM2):c.5771C>T (p.Thr1924Ile) rs1174452517 0.00001
NM_207361.6(FREM2):c.6101G>T (p.Gly2034Val) rs778531580 0.00001
NM_207361.6(FREM2):c.6307C>T (p.Arg2103Cys) rs368450271 0.00001
NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) rs116453495 0.00001
NM_207361.6(FREM2):c.7166C>T (p.Ala2389Val) rs199524550 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr) rs759338792 0.00001
NM_207361.6(FREM2):c.7519+12C>T rs1376730588 0.00001
NM_207361.6(FREM2):c.7936T>G (p.Ser2646Ala) rs532526246 0.00001
NM_207361.6(FREM2):c.8218C>T (p.Arg2740Cys) rs775185183 0.00001
NM_207361.6(FREM2):c.8225C>G (p.Ala2742Gly) rs1878277143 0.00001
NM_207361.6(FREM2):c.8838C>T (p.Leu2946=) rs769142295 0.00001
NM_207361.6(FREM2):c.8842T>C (p.Tyr2948His) rs188920480 0.00001
NM_207361.6(FREM2):c.913G>A (p.Val305Ile) rs778649414 0.00001
NM_207361.6(FREM2):c.9184G>T (p.Ala3062Ser) rs140456319 0.00001
NM_207361.6(FREM2):c.9282A>C (p.Pro3094=) rs549071375 0.00001
NM_207361.6(FREM2):c.*1148A>G rs368600284
NM_207361.6(FREM2):c.*1467G>A rs9548523
NM_207361.6(FREM2):c.*1675G>A rs187390888
NM_207361.6(FREM2):c.*1695T>C rs1272681317
NM_207361.6(FREM2):c.*1706C>A rs886050198
NM_207361.6(FREM2):c.*174C>G rs1878525492
NM_207361.6(FREM2):c.*1797C>T rs567320070
NM_207361.6(FREM2):c.*1890T>C rs886050200
NM_207361.6(FREM2):c.*2113T>C rs886050202
NM_207361.6(FREM2):c.*2140C>G rs7324632
NM_207361.6(FREM2):c.*223C>T rs115575417
NM_207361.6(FREM2):c.*224G>A rs575095989
NM_207361.6(FREM2):c.*2296T>C rs539188773
NM_207361.6(FREM2):c.*2348C>G rs1408274493
NM_207361.6(FREM2):c.*2395T>C rs771370901
NM_207361.6(FREM2):c.*2722T>C rs886050205
NM_207361.6(FREM2):c.*2747A>C rs967868768
NM_207361.6(FREM2):c.*294G>T rs1431429581
NM_207361.6(FREM2):c.*3094T>C rs886050206
NM_207361.6(FREM2):c.*314G>T rs551804129
NM_207361.6(FREM2):c.*3150G>C rs1878642054
NM_207361.6(FREM2):c.*3384G>A rs1566178910
NM_207361.6(FREM2):c.*3405A>G rs886050207
NM_207361.6(FREM2):c.*3487A>C rs1210937812
NM_207361.6(FREM2):c.*4504G>A rs151152504
NM_207361.6(FREM2):c.*4617A>G rs544047008
NM_207361.6(FREM2):c.*4686G>T rs886050211
NM_207361.6(FREM2):c.*5155G>A rs777929539
NM_207361.6(FREM2):c.*5171T>A rs1878710835
NM_207361.6(FREM2):c.*5598T>G rs1945506
NM_207361.6(FREM2):c.*5614G>T rs1878730751
NM_207361.6(FREM2):c.*5640C>T rs535523494
NM_207361.6(FREM2):c.*5864A>C rs886050219
NM_207361.6(FREM2):c.*6098A>G rs1878750161
NM_207361.6(FREM2):c.*617T>C rs1878544148
NM_207361.6(FREM2):c.*6297C>A rs886050222
NM_207361.6(FREM2):c.-193T>C rs886050184
NM_207361.6(FREM2):c.-219G>A rs886050183
NM_207361.6(FREM2):c.1266del (p.Asp423fs) rs1869623039
NM_207361.6(FREM2):c.15del (p.Thr6fs) rs1869502750
NM_207361.6(FREM2):c.175G>C (p.Gly59Arg) rs886050187
NM_207361.6(FREM2):c.176G>A (p.Gly59Asp) rs115327344
NM_207361.6(FREM2):c.176G>C (p.Gly59Ala) rs115327344
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) rs1869683236
NM_207361.6(FREM2):c.1A>G (p.Met1Val) rs886050185
NM_207361.6(FREM2):c.2062C>G (p.Arg688Gly) rs150928081
NM_207361.6(FREM2):c.2062C>T (p.Arg688Trp) rs150928081
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu) rs7327915
NM_207361.6(FREM2):c.2330C>T (p.Ala777Val) rs751699658
NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu) rs377001164
NM_207361.6(FREM2):c.2449A>G (p.Thr817Ala)
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr) rs1869732816
NM_207361.6(FREM2):c.2580T>C (p.Asp860=) rs1869737400
NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)
NM_207361.6(FREM2):c.2749G>A (p.Glu917Lys) rs536688833
NM_207361.6(FREM2):c.297G>A (p.Val99=) rs770972612
NM_207361.6(FREM2):c.3015T>C (p.Thr1005=) rs373638476
NM_207361.6(FREM2):c.3033G>C (p.Glu1011Asp) rs751307181
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) rs1555261304
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266
NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)
NM_207361.6(FREM2):c.3389G>A (p.Gly1130Glu) rs1453406056
NM_207361.6(FREM2):c.3738G>A (p.Thr1246=) rs530142447
NM_207361.6(FREM2):c.3890del (p.Ile1297fs) rs776269575
NM_207361.6(FREM2):c.3983T>C (p.Met1328Thr) rs780268243
NM_207361.6(FREM2):c.399del (p.Gly134fs) rs1869545423
NM_207361.6(FREM2):c.4050C>T (p.Gly1350=) rs753882674
NM_207361.6(FREM2):c.410G>A (p.Arg137His) rs1869547038
NM_207361.6(FREM2):c.4309G>A (p.Val1437Ile) rs1341655192
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) rs1869886793
NM_207361.6(FREM2):c.4796A>C (p.Glu1599Ala) rs765228681
NM_207361.6(FREM2):c.4910A>G (p.Glu1637Gly) rs531905447
NM_207361.6(FREM2):c.4968C>T (p.Pro1656=) rs886050190
NM_207361.6(FREM2):c.5263+10C>T rs781240147
NM_207361.6(FREM2):c.5282A>G (p.Tyr1761Cys) rs758678009
NM_207361.6(FREM2):c.5434G>A (p.Ala1812Thr) rs749830746
NM_207361.6(FREM2):c.5477T>C (p.Val1826Ala)
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882
NM_207361.6(FREM2):c.5545C>G (p.Gln1849Glu) rs886050191
NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile) rs548177107
NM_207361.6(FREM2):c.5768-4C>G rs1874247085
NM_207361.6(FREM2):c.5797G>A (p.Val1933Met) rs200700443
NM_207361.6(FREM2):c.5882G>C (p.Cys1961Ser) rs1426941309
NM_207361.6(FREM2):c.5914G>A (p.Glu1972Lys) rs121434356
NM_207361.6(FREM2):c.6019+7A>C rs768376629
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs) rs1877244252
NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly) rs9548505
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys) rs9548505
NM_207361.6(FREM2):c.6380-15C>G rs1877307671
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) rs143576067
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)
NM_207361.6(FREM2):c.699C>T (p.Leu233=) rs781523250
NM_207361.6(FREM2):c.7301G>T (p.Arg2434Leu) rs775757680
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs) rs1869579851
NM_207361.6(FREM2):c.7519+1G>A rs1566169711
NM_207361.6(FREM2):c.7546dup (p.Val2516fs)
NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu) rs200997496
NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser) rs115492820
NM_207361.6(FREM2):c.787G>A (p.Gly263Ser) rs752025828
NM_207361.6(FREM2):c.8376del (p.Val2793fs)
NM_207361.6(FREM2):c.8901T>C (p.Asn2967=) rs1878445288
NM_207361.6(FREM2):c.9357G>C (p.Thr3119=) rs41306664

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