ClinVar Miner

List of variants studied for Isolated cryptophthalmia; Fraser syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 528
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00828
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00768
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00766
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
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 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00206
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00141
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00133
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_207361.6(FREM2):c.109C>T (p.Leu37Phe) rs183560588 0.00081
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_207361.6(FREM2):c.4991C>T (p.Ala1664Val) rs149779771 0.00051
NM_207361.6(FREM2):c.3612G>A (p.Met1204Ile) rs115725479 0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00045
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys) rs114229197 0.00042
NM_207361.6(FREM2):c.2538C>A (p.Ile846=) rs377627650 0.00039
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=) rs114925418 0.00039
NM_207361.6(FREM2):c.2620C>T (p.His874Tyr) rs114555425 0.00033
NM_207361.6(FREM2):c.181G>C (p.Ala61Pro) rs553605556 0.00032
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu) rs200691357 0.00032
NM_207361.6(FREM2):c.4903G>A (p.Val1635Met) rs114069673 0.00030
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00029
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr) rs200983871 0.00028
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp) rs200898675 0.00026
NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro) rs140937193 0.00025
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_207361.6(FREM2):c.1677G>C (p.Gln559His) rs199921323 0.00021
NM_207361.6(FREM2):c.1701G>A (p.Thr567=) rs115263122 0.00021
NM_207361.6(FREM2):c.6404G>A (p.Arg2135Gln) rs149325030 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00020
NM_207361.6(FREM2):c.4034A>G (p.Tyr1345Cys) rs146195006 0.00019
NM_207361.6(FREM2):c.4975G>A (p.Ala1659Thr) rs114440488 0.00019
NM_207361.6(FREM2):c.9418A>G (p.Ser3140Gly) rs199853872 0.00019
NM_207361.6(FREM2):c.6127G>A (p.Val2043Ile) rs78870653 0.00017
NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn) rs138539682 0.00017
NM_207361.6(FREM2):c.1345C>G (p.Leu449Val) rs190063725 0.00016
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp) rs138416277 0.00016
NM_207361.6(FREM2):c.1288G>A (p.Val430Met) rs143148419 0.00015
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00014
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.6421G>A (p.Glu2141Lys) rs376602370 0.00013
NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys) rs553816676 0.00012
NM_207361.6(FREM2):c.6088G>C (p.Val2030Leu) rs116046652 0.00012
NM_207361.6(FREM2):c.3143A>G (p.Asn1048Ser) rs115192563 0.00011
NM_207361.6(FREM2):c.6098C>T (p.Thr2033Met) rs143791655 0.00011
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00011
NM_207361.6(FREM2):c.7389G>T (p.Lys2463Asn) rs374955641 0.00011
NM_207361.6(FREM2):c.2075G>A (p.Arg692His) rs367642497 0.00010
NM_207361.6(FREM2):c.3614G>A (p.Ser1205Asn) rs149074786 0.00010
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln) rs145484598 0.00009
NM_207361.6(FREM2):c.535C>G (p.Leu179Val) rs773823366 0.00009
NM_207361.6(FREM2):c.5789C>T (p.Pro1930Leu) rs114524483 0.00009
NM_207361.6(FREM2):c.685C>T (p.Arg229Cys) rs551818565 0.00009
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_207361.6(FREM2):c.8119G>A (p.Asp2707Asn) rs202167450 0.00008
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) rs374178459 0.00007
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_207361.6(FREM2):c.7883G>A (p.Arg2628Gln) rs199993718 0.00007
NM_207361.6(FREM2):c.8227G>A (p.Val2743Met) rs201978814 0.00007
NM_207361.6(FREM2):c.9056C>T (p.Ser3019Leu) rs751915292 0.00007
NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys) rs201457616 0.00006
NM_207361.6(FREM2):c.2812G>A (p.Asp938Asn) rs140907710 0.00006
NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr) rs753652530 0.00006
NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) rs148965852 0.00006
NM_207361.6(FREM2):c.5342A>G (p.Asn1781Ser) rs761546631 0.00006
NM_207361.6(FREM2):c.6959T>G (p.Val2320Gly) rs751649473 0.00006
NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val) rs760834204 0.00006
NM_207361.6(FREM2):c.7294C>T (p.Arg2432Trp) rs141120365 0.00006
NM_207361.6(FREM2):c.9149G>A (p.Arg3050Gln) rs750937878 0.00006
NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys) rs140036522 0.00005
NM_207361.6(FREM2):c.2093G>A (p.Arg698His) rs201217034 0.00005
NM_207361.6(FREM2):c.2596T>A (p.Phe866Ile) rs566743573 0.00005
NM_207361.6(FREM2):c.2791G>A (p.Val931Ile) rs200313149 0.00005
NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr) rs183068418 0.00005
NM_207361.6(FREM2):c.3607G>A (p.Gly1203Ser) rs772219385 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_207361.6(FREM2):c.4636A>G (p.Ser1546Gly) rs137891381 0.00005
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=) rs373878188 0.00005
NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala) rs186980482 0.00005
NM_207361.6(FREM2):c.8479C>T (p.Arg2827Cys) rs774259178 0.00005
NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu) rs755744742 0.00004
NM_207361.6(FREM2):c.1921A>G (p.Thr641Ala) rs116802472 0.00004
NM_207361.6(FREM2):c.2129G>A (p.Arg710His) rs372166899 0.00004
NM_207361.6(FREM2):c.3058A>G (p.Ser1020Gly) rs143904027 0.00004
NM_207361.6(FREM2):c.3109T>A (p.Ser1037Thr) rs774249973 0.00004
NM_207361.6(FREM2):c.3277G>A (p.Glu1093Lys) rs200577893 0.00004
NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys) rs138283768 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.5276T>C (p.Leu1759Ser) rs750450348 0.00004
NM_207361.6(FREM2):c.5494C>A (p.Gln1832Lys) rs114087410 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_207361.6(FREM2):c.8600C>T (p.Ser2867Phe) rs141835500 0.00004
NM_207361.6(FREM2):c.9212G>A (p.Arg3071Gln) rs150364221 0.00004
NM_207361.6(FREM2):c.1438C>T (p.Arg480Trp) rs756426681 0.00003
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu) rs369891021 0.00003
NM_207361.6(FREM2):c.6143G>A (p.Arg2048Gln) rs376956808 0.00003
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly) rs771744013 0.00003
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00003
NM_207361.6(FREM2):c.9125A>G (p.Lys3042Arg) rs200408567 0.00003
NM_207361.6(FREM2):c.9140C>A (p.Thr3047Asn) rs762219950 0.00003
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile) rs746265965 0.00002
NM_207361.6(FREM2):c.1349A>G (p.Tyr450Cys) rs757304008 0.00002
NM_207361.6(FREM2):c.2103G>A (p.Pro701=) rs117758105 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.2216G>A (p.Arg739His) rs773104019 0.00002
NM_207361.6(FREM2):c.2473G>A (p.Val825Met) rs757937131 0.00002
NM_207361.6(FREM2):c.2649C>G (p.Ile883Met) rs1235419314 0.00002
NM_207361.6(FREM2):c.319G>A (p.Val107Ile) rs763373816 0.00002
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00002
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro) rs777697719 0.00002
NM_207361.6(FREM2):c.4849T>C (p.Ser1617Pro) rs1168479985 0.00002
NM_207361.6(FREM2):c.5581G>A (p.Val1861Met) rs750889221 0.00002
NM_207361.6(FREM2):c.5611G>A (p.Ala1871Thr) rs542257246 0.00002
NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg) rs568057756 0.00002
NM_207361.6(FREM2):c.6334G>A (p.Glu2112Lys) rs746057172 0.00002
NM_207361.6(FREM2):c.6559A>G (p.Ile2187Val) rs774467094 0.00002
NM_207361.6(FREM2):c.6780C>A (p.Val2260=) rs369765588 0.00002
NM_207361.6(FREM2):c.7858G>A (p.Gly2620Ser) rs150819650 0.00002
NM_207361.6(FREM2):c.8280C>T (p.Pro2760=) rs372374968 0.00002
NM_207361.6(FREM2):c.8341C>T (p.Arg2781Cys) rs144909334 0.00002
NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter) rs1242415839 0.00002
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser) rs555402630 0.00002
NM_207361.6(FREM2):c.1085C>T (p.Pro362Leu) rs761048192 0.00001
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.1205C>T (p.Ser402Phe) rs761616009 0.00001
NM_207361.6(FREM2):c.1694C>G (p.Ala565Gly) rs1476350302 0.00001
NM_207361.6(FREM2):c.1994C>T (p.Pro665Leu) rs2541354048 0.00001
NM_207361.6(FREM2):c.2149C>T (p.Gln717Ter) rs1219155526 0.00001
NM_207361.6(FREM2):c.2393G>A (p.Arg798Gln) rs746604701 0.00001
NM_207361.6(FREM2):c.2794A>T (p.Asn932Tyr) rs767983230 0.00001
NM_207361.6(FREM2):c.2834A>G (p.His945Arg) rs752533715 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.3316A>G (p.Ile1106Val) rs143135965 0.00001
NM_207361.6(FREM2):c.368G>A (p.Ser123Asn) rs114929883 0.00001
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys) rs1437152125 0.00001
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) rs765324128 0.00001
NM_207361.6(FREM2):c.4171C>T (p.Arg1391Trp) rs765498536 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.4325A>G (p.Asp1442Gly) rs763043669 0.00001
NM_207361.6(FREM2):c.4426G>T (p.Gly1476Cys) rs774561102 0.00001
NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met) rs773471950 0.00001
NM_207361.6(FREM2):c.4889T>C (p.Val1630Ala) rs746466859 0.00001
NM_207361.6(FREM2):c.5035A>C (p.Ile1679Leu) rs1869927459 0.00001
NM_207361.6(FREM2):c.5282A>G (p.Tyr1761Cys) rs758678009 0.00001
NM_207361.6(FREM2):c.5378G>A (p.Arg1793His) rs144476070 0.00001
NM_207361.6(FREM2):c.5429G>A (p.Arg1810Lys) rs941240524 0.00001
NM_207361.6(FREM2):c.5434G>A (p.Ala1812Thr) rs749830746 0.00001
NM_207361.6(FREM2):c.5982del (p.Ala1996fs) rs746915794 0.00001
NM_207361.6(FREM2):c.6321C>T (p.Asn2107=) rs753876582 0.00001
NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) rs116453495 0.00001
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) rs1460573845 0.00001
NM_207361.6(FREM2):c.6680C>T (p.Pro2227Leu) rs778762322 0.00001
NM_207361.6(FREM2):c.6740A>G (p.Asp2247Gly) rs766949299 0.00001
NM_207361.6(FREM2):c.6819A>C (p.Arg2273Ser) rs202205485 0.00001
NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn) rs772357847 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.736G>A (p.Gly246Arg) rs547302858 0.00001
NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr) rs759338792 0.00001
NM_207361.6(FREM2):c.7652-13C>T rs766713506 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.8342G>A (p.Arg2781His) rs756570666 0.00001
NM_207361.6(FREM2):c.8842T>C (p.Tyr2948His) rs188920480 0.00001
NM_207361.6(FREM2):c.9407G>A (p.Arg3136Lys) rs142012270 0.00001
NM_207361.6(FREM2):c.1010C>T (p.Ala337Val)
NM_207361.6(FREM2):c.1033G>A (p.Ala345Thr)
NM_207361.6(FREM2):c.1051C>T (p.Pro351Ser)
NM_207361.6(FREM2):c.1073A>G (p.Asn358Ser)
NM_207361.6(FREM2):c.1100A>T (p.Gln367Leu)
NM_207361.6(FREM2):c.1127G>A (p.Arg376His)
NM_207361.6(FREM2):c.1127G>T (p.Arg376Leu)
NM_207361.6(FREM2):c.1130G>C (p.Ser377Thr) rs1171421240
NM_207361.6(FREM2):c.1165C>T (p.Arg389Trp)
NM_207361.6(FREM2):c.1189C>G (p.Pro397Ala)
NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala) rs372777373
NM_207361.6(FREM2):c.1282A>G (p.Met428Val)
NM_207361.6(FREM2):c.1325C>T (p.Thr442Ile)
NM_207361.6(FREM2):c.1336G>A (p.Gly446Ser)
NM_207361.6(FREM2):c.1348T>C (p.Tyr450His)
NM_207361.6(FREM2):c.1463G>A (p.Arg488Gln) rs146258429
NM_207361.6(FREM2):c.149C>T (p.Ala50Val)
NM_207361.6(FREM2):c.1510C>T (p.Pro504Ser)
NM_207361.6(FREM2):c.1546C>G (p.Gln516Glu)
NM_207361.6(FREM2):c.154G>C (p.Gly52Arg)
NM_207361.6(FREM2):c.1585A>G (p.Ser529Gly)
NM_207361.6(FREM2):c.1593C>G (p.Asn531Lys)
NM_207361.6(FREM2):c.1604G>A (p.Arg535His)
NM_207361.6(FREM2):c.1631A>G (p.Gln544Arg)
NM_207361.6(FREM2):c.170C>G (p.Ser57Cys)
NM_207361.6(FREM2):c.170C>T (p.Ser57Phe)
NM_207361.6(FREM2):c.176G>C (p.Gly59Ala) rs115327344
NM_207361.6(FREM2):c.1774G>T (p.Asp592Tyr) rs368864300
NM_207361.6(FREM2):c.178C>T (p.Leu60Phe)
NM_207361.6(FREM2):c.181G>T (p.Ala61Ser)
NM_207361.6(FREM2):c.1852C>T (p.Pro618Ser)
NM_207361.6(FREM2):c.1896G>C (p.Glu632Asp) rs2541353805
NM_207361.6(FREM2):c.1913G>A (p.Arg638Gln)
NM_207361.6(FREM2):c.1982A>G (p.His661Arg)
NM_207361.6(FREM2):c.1996G>A (p.Val666Ile)
NM_207361.6(FREM2):c.2024A>G (p.Gln675Arg)
NM_207361.6(FREM2):c.2037C>A (p.Asp679Glu)
NM_207361.6(FREM2):c.2087T>C (p.Val696Ala)
NM_207361.6(FREM2):c.208G>A (p.Glu70Lys)
NM_207361.6(FREM2):c.2090A>C (p.Asp697Ala)
NM_207361.6(FREM2):c.2179C>T (p.Arg727Cys)
NM_207361.6(FREM2):c.2197A>G (p.Thr733Ala)
NM_207361.6(FREM2):c.2206C>G (p.Arg736Gly)
NM_207361.6(FREM2):c.2215C>T (p.Arg739Cys)
NM_207361.6(FREM2):c.2221A>G (p.Thr741Ala)
NM_207361.6(FREM2):c.2250C>A (p.Asp750Glu) rs41292755
NM_207361.6(FREM2):c.2296A>G (p.Asn766Asp)
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu) rs7327915
NM_207361.6(FREM2):c.2366C>G (p.Pro789Arg)
NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu) rs377001164
NM_207361.6(FREM2):c.2369G>T (p.Gly790Val) rs1345185914
NM_207361.6(FREM2):c.2398G>A (p.Ala800Thr)
NM_207361.6(FREM2):c.239G>A (p.Arg80Gln)
NM_207361.6(FREM2):c.2409G>C (p.Gln803His)
NM_207361.6(FREM2):c.2423A>G (p.Asp808Gly)
NM_207361.6(FREM2):c.244C>T (p.Pro82Ser)
NM_207361.6(FREM2):c.2485C>T (p.Pro829Ser)
NM_207361.6(FREM2):c.2519A>G (p.Gln840Arg)
NM_207361.6(FREM2):c.2544T>G (p.Ser848Arg)
NM_207361.6(FREM2):c.2560G>A (p.Val854Met)
NM_207361.6(FREM2):c.2578G>A (p.Asp860Asn)
NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) rs750020230
NM_207361.6(FREM2):c.2619A>T (p.Lys873Asn)
NM_207361.6(FREM2):c.2646_2647del (p.Gln882fs)
NM_207361.6(FREM2):c.2690A>G (p.Gln897Arg)
NM_207361.6(FREM2):c.2705A>G (p.Tyr902Cys)
NM_207361.6(FREM2):c.2756G>C (p.Ser919Thr)
NM_207361.6(FREM2):c.2800C>T (p.Arg934Trp)
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.2839A>G (p.Thr947Ala)
NM_207361.6(FREM2):c.2864A>T (p.Asp955Val)
NM_207361.6(FREM2):c.2872G>A (p.Glu958Lys)
NM_207361.6(FREM2):c.2876del (p.Asn959fs)
NM_207361.6(FREM2):c.2900A>G (p.Asn967Ser)
NM_207361.6(FREM2):c.2900A>T (p.Asn967Ile)
NM_207361.6(FREM2):c.2918A>T (p.Asn973Ile) rs775987605
NM_207361.6(FREM2):c.2982C>G (p.Ile994Met)
NM_207361.6(FREM2):c.3014C>T (p.Thr1005Ile)
NM_207361.6(FREM2):c.3067A>G (p.Ile1023Val)
NM_207361.6(FREM2):c.3101T>C (p.Leu1034Pro)
NM_207361.6(FREM2):c.3128G>C (p.Trp1043Ser)
NM_207361.6(FREM2):c.3151C>G (p.Gln1051Glu)
NM_207361.6(FREM2):c.3155G>A (p.Gly1052Glu)
NM_207361.6(FREM2):c.3161_3163del (p.Thr1054del)
NM_207361.6(FREM2):c.3167G>A (p.Trp1056Ter)
NM_207361.6(FREM2):c.3214G>A (p.Gly1072Ser)
NM_207361.6(FREM2):c.3221A>G (p.Gln1074Arg)
NM_207361.6(FREM2):c.3244A>G (p.Lys1082Glu)
NM_207361.6(FREM2):c.3253A>T (p.Ile1085Leu)
NM_207361.6(FREM2):c.3301G>C (p.Asp1101His)
NM_207361.6(FREM2):c.3310_3311dup (p.Thr1105fs)
NM_207361.6(FREM2):c.3328C>T (p.Pro1110Ser)
NM_207361.6(FREM2):c.3331A>C (p.Thr1111Pro)
NM_207361.6(FREM2):c.3342T>G (p.Tyr1114Ter)
NM_207361.6(FREM2):c.3352A>G (p.Ile1118Val)
NM_207361.6(FREM2):c.3365C>A (p.Pro1122Gln)
NM_207361.6(FREM2):c.3371C>T (p.Ser1124Phe)
NM_207361.6(FREM2):c.3397A>G (p.Ile1133Val)
NM_207361.6(FREM2):c.3411C>G (p.Asn1137Lys)
NM_207361.6(FREM2):c.3415A>G (p.Lys1139Glu)
NM_207361.6(FREM2):c.3443A>G (p.Tyr1148Cys)
NM_207361.6(FREM2):c.3445G>A (p.Val1149Ile)
NM_207361.6(FREM2):c.3463G>A (p.Gly1155Arg)
NM_207361.6(FREM2):c.3495T>G (p.Phe1165Leu)
NM_207361.6(FREM2):c.3503C>T (p.Ser1168Phe)
NM_207361.6(FREM2):c.3527G>T (p.Arg1176Ile)
NM_207361.6(FREM2):c.3538C>T (p.Pro1180Ser)
NM_207361.6(FREM2):c.3569del (p.Gln1190fs) rs753746099
NM_207361.6(FREM2):c.361_362insCCC (p.Gly120_Arg121insPro)
NM_207361.6(FREM2):c.3659_3670del (p.Val1220_Asp1223del)
NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val) rs776875620
NM_207361.6(FREM2):c.3715A>T (p.Met1239Leu) rs1461225198
NM_207361.6(FREM2):c.3737del (p.Thr1246fs)
NM_207361.6(FREM2):c.3745G>T (p.Val1249Phe)
NM_207361.6(FREM2):c.3777G>C (p.Glu1259Asp)
NM_207361.6(FREM2):c.3872C>T (p.Thr1291Met)
NM_207361.6(FREM2):c.3890T>C (p.Ile1297Thr)
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His) rs371827710
NM_207361.6(FREM2):c.3967A>G (p.Asn1323Asp)
NM_207361.6(FREM2):c.397C>A (p.Pro133Thr)
NM_207361.6(FREM2):c.400G>A (p.Gly134Ser)
NM_207361.6(FREM2):c.4030C>A (p.Arg1344Ser)
NM_207361.6(FREM2):c.4030C>T (p.Arg1344Cys) rs114409305
NM_207361.6(FREM2):c.4037G>A (p.Gly1346Glu)
NM_207361.6(FREM2):c.4117G>A (p.Asp1373Asn)
NM_207361.6(FREM2):c.4122A>G (p.Glu1374=)
NM_207361.6(FREM2):c.4123G>C (p.Val1375Leu)
NM_207361.6(FREM2):c.4174G>A (p.Asp1392Asn)
NM_207361.6(FREM2):c.4232_4233del (p.Tyr1411fs)
NM_207361.6(FREM2):c.4288T>A (p.Ser1430Thr)
NM_207361.6(FREM2):c.4297G>A (p.Glu1433Lys)
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg) rs564740435
NM_207361.6(FREM2):c.437C>T (p.Pro146Leu)
NM_207361.6(FREM2):c.4405C>T (p.Leu1469=)
NM_207361.6(FREM2):c.4485C>G (p.Ile1495Met)
NM_207361.6(FREM2):c.4511T>C (p.Met1504Thr)
NM_207361.6(FREM2):c.4543C>T (p.Arg1515Cys)
NM_207361.6(FREM2):c.4550C>T (p.Pro1517Leu)
NM_207361.6(FREM2):c.4559G>A (p.Arg1520Gln)
NM_207361.6(FREM2):c.4574C>G (p.Ser1525Cys)
NM_207361.6(FREM2):c.4588G>C (p.Asp1530His) rs886043214
NM_207361.6(FREM2):c.4612A>T (p.Ile1538Phe)
NM_207361.6(FREM2):c.4772T>G (p.Val1591Gly)
NM_207361.6(FREM2):c.4807A>G (p.Ser1603Gly)
NM_207361.6(FREM2):c.4834A>C (p.Ser1612Arg)
NM_207361.6(FREM2):c.485G>A (p.Gly162Glu)
NM_207361.6(FREM2):c.485G>T (p.Gly162Val)
NM_207361.6(FREM2):c.4868G>A (p.Gly1623Asp)
NM_207361.6(FREM2):c.4873C>T (p.His1625Tyr)
NM_207361.6(FREM2):c.4888G>A (p.Val1630Ile)
NM_207361.6(FREM2):c.4926A>G (p.Gln1642=)
NM_207361.6(FREM2):c.493G>A (p.Val165Met)
NM_207361.6(FREM2):c.493G>T (p.Val165Leu)
NM_207361.6(FREM2):c.4951G>A (p.Val1651Ile)
NM_207361.6(FREM2):c.5021A>T (p.His1674Leu)
NM_207361.6(FREM2):c.5047A>G (p.Ile1683Val)
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
NM_207361.6(FREM2):c.5069A>G (p.Asp1690Gly)
NM_207361.6(FREM2):c.5070C>G (p.Asp1690Glu)
NM_207361.6(FREM2):c.511G>A (p.Glu171Lys)
NM_207361.6(FREM2):c.5203G>C (p.Val1735Leu)
NM_207361.6(FREM2):c.5209A>G (p.Arg1737Gly) rs1017554850
NM_207361.6(FREM2):c.520G>A (p.Val174Met)
NM_207361.6(FREM2):c.5218G>T (p.Ala1740Ser)
NM_207361.6(FREM2):c.5237T>C (p.Met1746Thr)
NM_207361.6(FREM2):c.5249C>G (p.Ala1750Gly)
NM_207361.6(FREM2):c.5251G>A (p.Val1751Ile)
NM_207361.6(FREM2):c.5362G>C (p.Asp1788His)
NM_207361.6(FREM2):c.5364T>A (p.Asp1788Glu)
NM_207361.6(FREM2):c.5393G>A (p.Gly1798Glu)
NM_207361.6(FREM2):c.53C>G (p.Thr18Ser)
NM_207361.6(FREM2):c.5409A>G (p.Ile1803Met)
NM_207361.6(FREM2):c.5422A>G (p.Arg1808Gly)
NM_207361.6(FREM2):c.5437G>A (p.Glu1813Lys)
NM_207361.6(FREM2):c.551G>A (p.Arg184Gln)
NM_207361.6(FREM2):c.5566G>C (p.Val1856Leu)
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.5642-11T>A
NM_207361.6(FREM2):c.565G>A (p.Val189Ile)
NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile) rs548177107
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.5704A>G (p.Ile1902Val)
NM_207361.6(FREM2):c.5749G>A (p.Val1917Ile)
NM_207361.6(FREM2):c.5851C>T (p.Arg1951Cys)
NM_207361.6(FREM2):c.5873A>G (p.Glu1958Gly)
NM_207361.6(FREM2):c.5881T>C (p.Cys1961Arg)
NM_207361.6(FREM2):c.5888T>C (p.Ile1963Thr)
NM_207361.6(FREM2):c.5914G>A (p.Glu1972Lys) rs121434356
NM_207361.6(FREM2):c.5938C>A (p.Leu1980Ile)
NM_207361.6(FREM2):c.5939T>C (p.Leu1980Pro)
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.5955G>T (p.Met1985Ile)
NM_207361.6(FREM2):c.5959G>A (p.Gly1987Arg)
NM_207361.6(FREM2):c.5968G>A (p.Gly1990Arg)
NM_207361.6(FREM2):c.5998A>G (p.Ile2000Val)
NM_207361.6(FREM2):c.5999T>C (p.Ile2000Thr)
NM_207361.6(FREM2):c.6017A>C (p.Asp2006Ala)
NM_207361.6(FREM2):c.6023C>G (p.Pro2008Arg)
NM_207361.6(FREM2):c.6026T>C (p.Ile2009Thr)
NM_207361.6(FREM2):c.6103A>C (p.Thr2035Pro)
NM_207361.6(FREM2):c.611G>A (p.Ser204Asn)
NM_207361.6(FREM2):c.6124A>G (p.Ser2042Gly)
NM_207361.6(FREM2):c.6194G>A (p.Ser2065Asn)
NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly) rs9548505
NM_207361.6(FREM2):c.6197G>A (p.Arg2066His)
NM_207361.6(FREM2):c.6224A>C (p.Asn2075Thr)
NM_207361.6(FREM2):c.6239G>A (p.Arg2080His)
NM_207361.6(FREM2):c.6242T>C (p.Val2081Ala)
NM_207361.6(FREM2):c.6268C>A (p.Pro2090Thr)
NM_207361.6(FREM2):c.6308G>A (p.Arg2103His)
NM_207361.6(FREM2):c.6312G>A (p.Met2104Ile)
NM_207361.6(FREM2):c.6322G>A (p.Ala2108Thr)
NM_207361.6(FREM2):c.6376G>A (p.Asp2126Asn)
NM_207361.6(FREM2):c.6378T>C (p.Asp2126=)
NM_207361.6(FREM2):c.6410A>G (p.Tyr2137Cys)
NM_207361.6(FREM2):c.6431G>C (p.Gly2144Ala)
NM_207361.6(FREM2):c.6439G>T (p.Val2147Phe)
NM_207361.6(FREM2):c.6476G>C (p.Arg2159Thr)
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg) rs886042926
NM_207361.6(FREM2):c.6494A>G (p.Tyr2165Cys)
NM_207361.6(FREM2):c.649C>T (p.Arg217Cys) rs199674984
NM_207361.6(FREM2):c.6506G>T (p.Gly2169Val)
NM_207361.6(FREM2):c.6538C>T (p.Arg2180Cys)
NM_207361.6(FREM2):c.6560T>A (p.Ile2187Asn)
NM_207361.6(FREM2):c.6578-7G>T rs2137911376
NM_207361.6(FREM2):c.6613G>T (p.Asp2205Tyr)
NM_207361.6(FREM2):c.6629A>T (p.Glu2210Val)
NM_207361.6(FREM2):c.6630G>C (p.Glu2210Asp)
NM_207361.6(FREM2):c.6658G>A (p.Gly2220Ser)
NM_207361.6(FREM2):c.6698G>T (p.Gly2233Val)
NM_207361.6(FREM2):c.6707A>G (p.Asn2236Ser)
NM_207361.6(FREM2):c.6726C>G (p.Ile2242Met)
NM_207361.6(FREM2):c.6758T>A (p.Phe2253Tyr)
NM_207361.6(FREM2):c.6799G>A (p.Gly2267Arg)
NM_207361.6(FREM2):c.6800G>C (p.Gly2267Ala)
NM_207361.6(FREM2):c.6811G>C (p.Val2271Leu)
NM_207361.6(FREM2):c.68G>T (p.Gly23Val)
NM_207361.6(FREM2):c.6925+3A>G
NM_207361.6(FREM2):c.6925G>A (p.Glu2309Lys)
NM_207361.6(FREM2):c.6926-2A>T
NM_207361.6(FREM2):c.692G>T (p.Gly231Val)
NM_207361.6(FREM2):c.7006G>A (p.Ala2336Thr)
NM_207361.6(FREM2):c.700C>T (p.Leu234Phe)
NM_207361.6(FREM2):c.7028C>T (p.Pro2343Leu)
NM_207361.6(FREM2):c.703C>T (p.His235Tyr)
NM_207361.6(FREM2):c.7053G>A (p.Met2351Ile)
NM_207361.6(FREM2):c.7057T>C (p.Leu2353=)
NM_207361.6(FREM2):c.7061C>T (p.Thr2354Met)
NM_207361.6(FREM2):c.7102G>A (p.Asp2368Asn)
NM_207361.6(FREM2):c.7104T>G (p.Asp2368Glu)
NM_207361.6(FREM2):c.7149del (p.Met2382_Tyr2383insTer)
NM_207361.6(FREM2):c.7173G>C (p.Glu2391Asp)
NM_207361.6(FREM2):c.7230A>T (p.Lys2410Asn)
NM_207361.6(FREM2):c.7270G>A (p.Glu2424Lys)
NM_207361.6(FREM2):c.7301G>T (p.Arg2434Leu) rs775757680
NM_207361.6(FREM2):c.7352G>A (p.Arg2451Lys)
NM_207361.6(FREM2):c.7477_7478del (p.Leu2493fs) rs2541495847
NM_207361.6(FREM2):c.7483C>G (p.Leu2495Val)
NM_207361.6(FREM2):c.7488G>C (p.Met2496Ile)
NM_207361.6(FREM2):c.748G>T (p.Glu250Ter)
NM_207361.6(FREM2):c.748del (p.Glu250fs)
NM_207361.6(FREM2):c.7492C>T (p.Pro2498Ser)
NM_207361.6(FREM2):c.7501A>G (p.Thr2501Ala)
NM_207361.6(FREM2):c.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_207361.6(FREM2):c.7583del (p.Tyr2528fs)
NM_207361.6(FREM2):c.7654A>G (p.Met2552Val)
NM_207361.6(FREM2):c.7663G>A (p.Val2555Met)
NM_207361.6(FREM2):c.7717A>G (p.Thr2573Ala)
NM_207361.6(FREM2):c.7759A>G (p.Thr2587Ala)
NM_207361.6(FREM2):c.777C>A (p.Phe259Leu)
NM_207361.6(FREM2):c.7847T>A (p.Leu2616Ter)
NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser) rs115492820
NM_207361.6(FREM2):c.7874G>A (p.Arg2625His)
NM_207361.6(FREM2):c.787G>A (p.Gly263Ser) rs752025828
NM_207361.6(FREM2):c.7891A>G (p.Asn2631Asp)
NM_207361.6(FREM2):c.7898A>G (p.Glu2633Gly)
NM_207361.6(FREM2):c.7907T>C (p.Leu2636Ser)
NM_207361.6(FREM2):c.7952A>G (p.Asp2651Gly)
NM_207361.6(FREM2):c.8023C>T (p.Pro2675Ser)
NM_207361.6(FREM2):c.8041G>T (p.Val2681Leu) rs367698077
NM_207361.6(FREM2):c.8056G>A (p.Val2686Met)
NM_207361.6(FREM2):c.8060G>A (p.Gly2687Glu)
NM_207361.6(FREM2):c.8066G>C (p.Gly2689Ala)
NM_207361.6(FREM2):c.8077C>A (p.His2693Asn)
NM_207361.6(FREM2):c.808G>A (p.Ala270Thr)
NM_207361.6(FREM2):c.8137A>G (p.Asn2713Asp)
NM_207361.6(FREM2):c.8138A>G (p.Asn2713Ser)
NM_207361.6(FREM2):c.8158C>T (p.Pro2720Ser)
NM_207361.6(FREM2):c.826A>T (p.Asn276Tyr)
NM_207361.6(FREM2):c.8281+2T>G
NM_207361.6(FREM2):c.830G>A (p.Arg277Lys)
NM_207361.6(FREM2):c.833A>C (p.Asp278Ala)
NM_207361.6(FREM2):c.8347A>T (p.Ile2783Leu)
NM_207361.6(FREM2):c.8395G>T (p.Val2799Phe)
NM_207361.6(FREM2):c.83C>G (p.Pro28Arg)
NM_207361.6(FREM2):c.8413C>T (p.Arg2805Cys)
NM_207361.6(FREM2):c.842C>T (p.Pro281Leu)
NM_207361.6(FREM2):c.8473G>A (p.Glu2825Lys)
NM_207361.6(FREM2):c.8480G>A (p.Arg2827His)
NM_207361.6(FREM2):c.8539C>T (p.Gln2847Ter)
NM_207361.6(FREM2):c.8573G>A (p.Ser2858Asn)
NM_207361.6(FREM2):c.8641G>C (p.Gly2881Arg)
NM_207361.6(FREM2):c.8671+3A>G
NM_207361.6(FREM2):c.8672-1G>C
NM_207361.6(FREM2):c.8698G>A (p.Val2900Met)
NM_207361.6(FREM2):c.8797A>G (p.Met2933Val)
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp) rs1869591293
NM_207361.6(FREM2):c.8855T>C (p.Ile2952Thr) rs370252377
NM_207361.6(FREM2):c.8881C>A (p.Gln2961Lys)
NM_207361.6(FREM2):c.8966G>A (p.Gly2989Glu)
NM_207361.6(FREM2):c.9007-3T>C
NM_207361.6(FREM2):c.9007-4C>G
NM_207361.6(FREM2):c.9020G>A (p.Arg3007Gln)
NM_207361.6(FREM2):c.9035A>G (p.His3012Arg)
NM_207361.6(FREM2):c.9064A>T (p.Asn3022Tyr)
NM_207361.6(FREM2):c.9073C>T (p.Arg3025Ter)
NM_207361.6(FREM2):c.9074G>A (p.Arg3025Gln)
NM_207361.6(FREM2):c.9092G>T (p.Ser3031Ile)
NM_207361.6(FREM2):c.911A>G (p.Gln304Arg)
NM_207361.6(FREM2):c.9166A>G (p.Arg3056Gly)
NM_207361.6(FREM2):c.9193A>G (p.Ile3065Val)
NM_207361.6(FREM2):c.9232A>T (p.Ile3078Phe)
NM_207361.6(FREM2):c.9245G>A (p.Arg3082His) rs149553690
NM_207361.6(FREM2):c.925A>G (p.Ile309Val)
NM_207361.6(FREM2):c.9269G>T (p.Gly3090Val)
NM_207361.6(FREM2):c.9285T>G (p.Asp3095Glu)
NM_207361.6(FREM2):c.9313C>A (p.Pro3105Thr)
NM_207361.6(FREM2):c.9350G>A (p.Gly3117Asp)
NM_207361.6(FREM2):c.9370A>T (p.Thr3124Ser)
NM_207361.6(FREM2):c.9410dup (p.Lys3138fs)
NM_207361.6(FREM2):c.9424del (p.Arg3142fs)
NM_207361.6(FREM2):c.9449C>T (p.Ser3150Phe)
NM_207361.6(FREM2):c.9458G>A (p.Ser3153Asn)
NM_207361.6(FREM2):c.9460G>T (p.Glu3154Ter)
NM_207361.6(FREM2):c.9482G>A (p.Ser3161Asn)
NM_207361.6(FREM2):c.9487C>G (p.His3163Asp)
NM_207361.6(FREM2):c.9502G>C (p.Glu3168Gln)
NM_207361.6(FREM2):c.956A>T (p.Lys319Met)
NM_207361.6(FREM2):c.959C>A (p.Pro320His)
NM_207361.6(FREM2):c.981G>A (p.Met327Ile)
NM_207361.6(FREM2):c.996G>C (p.Gln332His) rs200316547
NM_207361.6(FREM2):c.999T>A (p.Phe333Leu)

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