ClinVar Miner

List of variants studied for Fraser syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.1534+19A>G rs6829493 0.01482
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
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.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_025074.7(FRAS1):c.790-20C>T rs74461034 0.00292
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_025074.7(FRAS1):c.1108-12T>G rs150372637 0.00183
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=) rs74893124 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00141
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_025074.7(FRAS1):c.3010+14_3010+29del rs112289727 0.00091
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00089
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_025074.7(FRAS1):c.10390-18A>T rs146407399 0.00070
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) rs201745281 0.00070
NM_025074.7(FRAS1):c.9317-4G>A rs142971896 0.00066
NM_025074.7(FRAS1):c.5010A>G (p.Leu1670=) rs187816883 0.00063
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) rs77601278 0.00050
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) rs200056545 0.00048
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
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_001366722.1(GRIP1):c.2886G>A (p.Pro962=) rs375330927 0.00038
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) rs200888184 0.00035
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys) rs373994193 0.00032
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu) rs200691357 0.00032
NM_025074.7(FRAS1):c.396G>A (p.Pro132=) rs370747359 0.00031
NM_025074.7(FRAS1):c.7344C>T (p.Leu2448=) rs201842464 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr) rs200983871 0.00029
NM_025074.7(FRAS1):c.10649-18T>C rs183886250 0.00028
NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) rs200203389 0.00027
NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn) rs373074293 0.00026
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp) rs200898675 0.00026
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=) rs375278138 0.00024
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=) rs187011600 0.00023
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=) rs368304108 0.00021
NM_207361.6(FREM2):c.1677G>C (p.Gln559His) rs199921323 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=) rs367585112 0.00019
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr) rs201740573 0.00019
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu) rs376122558 0.00019
NM_025074.7(FRAS1):c.8058C>T (p.Asn2686=) rs767860539 0.00019
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00019
NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro) rs140937193 0.00019
NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg) rs376808560 0.00018
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn) rs370629874 0.00018
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) rs201410285 0.00016
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025074.7(FRAS1):c.687+20A>G rs779551290 0.00016
NM_025074.7(FRAS1):c.809G>A (p.Arg270His) rs374688692 0.00016
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp) rs138416277 0.00016
NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn) rs138539682 0.00016
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn) rs373601771 0.00015
NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu) rs200171461 0.00014
NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=) rs367736746 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile) rs199936956 0.00013
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) rs201110914 0.00013
NM_025074.7(FRAS1):c.9375T>A (p.His3125Gln) rs370907958 0.00013
NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln) rs145484598 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_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00012
NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys) rs553816676 0.00012
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_025074.7(FRAS1):c.2070C>T (p.Ile690=) rs531800217 0.00011
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00011
NM_025074.7(FRAS1):c.783C>T (p.Cys261=) rs374802344 0.00011
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg) rs199745197 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=) rs779095746 0.00010
NM_207361.6(FREM2):c.2075G>A (p.Arg692His) rs367642497 0.00010
NM_025074.7(FRAS1):c.10540+15G>A rs766110910 0.00009
NM_025074.7(FRAS1):c.1716C>T (p.Ser572=) rs756854613 0.00009
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) rs376814395 0.00009
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys) rs750736066 0.00007
NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys) rs376133490 0.00007
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val) rs202221840 0.00007
NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His) rs377717035 0.00007
NM_025074.7(FRAS1):c.8064C>T (p.Ser2688=) rs371145937 0.00007
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) rs375885501 0.00007
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=) rs768730046 0.00006
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) rs540468070 0.00006
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) rs542462169 0.00006
NM_025074.7(FRAS1):c.10129G>A (p.Val3377Ile) rs573489939 0.00006
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val) rs373595232 0.00006
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly) rs550166836 0.00006
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) rs367598897 0.00006
NM_025074.7(FRAS1):c.2515G>A (p.Gly839Arg) rs199918192 0.00006
NM_025074.7(FRAS1):c.2803G>C (p.Gly935Arg) rs200113218 0.00006
NM_207361.6(FREM2):c.1369C>G (p.Leu457Val) rs141900626 0.00006
NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys) rs140036522 0.00006
NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr) rs753652530 0.00006
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) rs374178459 0.00006
NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val) rs760834204 0.00006
NM_207361.6(FREM2):c.8227G>A (p.Val2743Met) rs201978814 0.00006
NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg) rs771823092 0.00005
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) rs772941624 0.00005
NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu) rs778174997 0.00005
NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys) rs773283272 0.00005
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) rs779931297 0.00005
NM_207361.6(FREM2):c.2093G>A (p.Arg698His) rs201217034 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 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_025074.7(FRAS1):c.10091A>G (p.His3364Arg) rs922004210 0.00004
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala) rs745919146 0.00004
NM_025074.7(FRAS1):c.10418C>T (p.Thr3473Ile) rs746290270 0.00004
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys) rs779521854 0.00004
NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg) rs767882606 0.00004
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025074.7(FRAS1):c.5027G>A (p.Gly1676Asp) rs1197038878 0.00004
NM_025074.7(FRAS1):c.517C>T (p.Arg173Trp) rs767674052 0.00004
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) rs373432682 0.00004
NM_025074.7(FRAS1):c.7431G>A (p.Ala2477=) rs750729569 0.00004
NM_025074.7(FRAS1):c.8397G>A (p.Ser2799=) rs113839220 0.00004
NM_025074.7(FRAS1):c.847G>A (p.Gly283Arg) rs752345568 0.00004
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr) rs189205642 0.00004
NM_025074.7(FRAS1):c.8642C>T (p.Pro2881Leu) rs779660887 0.00004
NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu) rs755744742 0.00004
NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr) rs183068418 0.00004
NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys) rs138283768 0.00004
NM_207361.6(FREM2):c.38G>A (p.Arg13Gln) rs765718616 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.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_025074.7(FRAS1):c.-18G>T rs750662462 0.00003
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln) rs370319615 0.00003
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp) rs759074187 0.00003
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp) rs375515578 0.00003
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln) rs772059263 0.00003
NM_025074.7(FRAS1):c.5006C>T (p.Ala1669Val) rs774087208 0.00003
NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg) rs997260986 0.00003
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln) rs771923121 0.00003
NM_025074.7(FRAS1):c.7030-6G>A rs771012779 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_025074.7(FRAS1):c.8827C>T (p.Arg2943Trp) rs751338045 0.00003
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val) rs886059637 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_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser) rs775451018 0.00002
NM_025074.7(FRAS1):c.2826C>T (p.Cys942=) rs775694534 0.00002
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr) rs139162588 0.00002
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00002
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn) rs148042277 0.00002
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys) rs376675521 0.00002
NM_025074.7(FRAS1):c.8958+4A>G rs368613886 0.00002
NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=) rs376083444 0.00002
NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=) rs774103279 0.00002
NM_025074.7(FRAS1):c.9724C>T (p.Arg3242Trp) rs765238008 0.00002
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile) rs746265965 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.2473G>A (p.Val825Met) rs757937131 0.00002
NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met) rs773471950 0.00002
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro) rs777697719 0.00002
NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg) rs568057756 0.00002
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) rs1460573845 0.00002
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser) rs555402630 0.00002
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) rs753454152 0.00001
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) rs760273176 0.00001
NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser) rs771473441 0.00001
NM_001366722.1(GRIP1):c.872+7A>G rs886049798 0.00001
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) rs748159035 0.00001
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys) rs755221317 0.00001
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu) rs368792355 0.00001
NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln) rs369973948 0.00001
NM_025074.7(FRAS1):c.1897C>T (p.Arg633Cys) rs370349229 0.00001
NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly) rs781560608 0.00001
NM_025074.7(FRAS1):c.2625C>T (p.Cys875=) rs769192947 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.3523G>A (p.Glu1175Lys) rs746130442 0.00001
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) rs566595838 0.00001
NM_025074.7(FRAS1):c.5939C>T (p.Ser1980Phe) rs762464811 0.00001
NM_025074.7(FRAS1):c.6496C>A (p.Pro2166Thr) rs767095340 0.00001
NM_025074.7(FRAS1):c.7030-3C>G rs1254762800 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) rs865839705 0.00001
NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys) rs1719826004 0.00001
NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp) rs367972398 0.00001
NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg) rs771808832 0.00001
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) rs377137481 0.00001
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.2103G>A (p.Pro701=) rs117758105 0.00001
NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser) rs559654259 0.00001
NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val) rs776875620 0.00001
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys) rs1437152125 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.5378G>A (p.Arg1793His) rs144476070 0.00001
NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) rs116453495 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.7441G>A (p.Ala2481Thr) rs759338792 0.00001
NM_207361.6(FREM2):c.7936T>G (p.Ser2646Ala) rs532526246 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 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_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) rs377102088
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro) rs1399050730
NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn) rs2110114875
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln) rs141843124
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr) rs199542867
NM_025074.7(FRAS1):c.1931del (p.Gly644fs) rs794727195
NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr) rs369605412
NM_025074.7(FRAS1):c.2313G>A (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val) rs1704836684
NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys) rs375063448
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) rs770386832
NM_025074.7(FRAS1):c.4969+19A>T rs73831318
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.585G>T (p.Gln195His) rs930940115
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn) rs200547348
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) rs2109847651
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer) rs1263546070
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) rs754878371
NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala) rs372777373
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu) rs7327915
NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu) rs377001164
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His) rs371827710
NM_207361.6(FREM2):c.4588G>C (p.Asp1530His) rs886043214
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg) rs886042926
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.7873C>A (p.Arg2625Ser) rs115492820
NM_207361.6(FREM2):c.787G>A (p.Gly263Ser) rs752025828
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp) rs1869591293

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