ClinVar Miner

List of variants reported as uncertain significance for cryptophthalmia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 750
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_207361.6(FREM2):c.*5616T>A rs570011150 0.01008
NM_207361.6(FREM2):c.*1321G>A rs78527665 0.00828
NM_207361.6(FREM2):c.*4907C>T rs185608262 0.00754
NM_001366722.1(GRIP1):c.*138C>T rs191549204 0.00713
NM_207361.6(FREM2):c.*2884G>T rs191748020 0.00362
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_001366722.1(GRIP1):c.*930T>A rs138773990 0.00342
NM_207361.5(FREM2):c.-285C>G rs573143355 0.00312
NM_001366722.1(GRIP1):c.*99G>A rs200232418 0.00287
NM_207361.6(FREM2):c.*2266C>G rs149807035 0.00285
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_207361.6(FREM2):c.*3650A>G rs544403648 0.00222
NM_001366722.1(GRIP1):c.-172A>G rs188800373 0.00198
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_025074.7(FRAS1):c.*938A>G rs559819253 0.00182
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_025074.7(FRAS1):c.*1547C>G rs186398273 0.00155
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00155
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_207361.6(FREM2):c.*1731A>G rs886050199 0.00146
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_001366722.1(GRIP1):c.-165A>C rs566069611 0.00138
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
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.7429C>T (p.Arg2477Trp) rs143571375 0.00115
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=) rs375788413 0.00102
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys) rs200292361 0.00099
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) rs183328334 0.00096
NM_207361.6(FREM2):c.-251A>G rs556209580 0.00096
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser) rs200689785 0.00091
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val) rs201864889 0.00091
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00089
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00088
NM_207361.6(FREM2):c.8671+14A>G rs182974545 0.00088
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
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_025074.7(FRAS1):c.*2490G>A rs186193838 0.00077
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00074
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys) rs186811333 0.00074
NM_207361.6(FREM2):c.*5615_*5616insG rs886050216 0.00074
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) rs201675499 0.00073
NM_207361.6(FREM2):c.*3278C>T rs531852928 0.00073
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_001366722.1(GRIP1):c.-158G>A rs559798312 0.00069
NM_207361.6(FREM2):c.*1203G>C rs866103451 0.00069
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00064
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00063
NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met) rs138477887 0.00063
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=) rs149802708 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_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser) rs201277074 0.00054
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_207361.6(FREM2):c.*4731G>A rs554764998 0.00051
NM_207361.6(FREM2):c.4991C>T (p.Ala1664Val) rs149779771 0.00051
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) rs77601278 0.00050
NM_207361.6(FREM2):c.*6183C>T rs113097228 0.00050
NM_001366722.1(GRIP1):c.*617G>A rs554240061 0.00048
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) rs200056545 0.00048
NM_207361.6(FREM2):c.8918A>G (p.Lys2973Arg) rs147506207 0.00047
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00046
NM_025074.7(FRAS1):c.4364C>T (p.Ala1455Val) rs201693179 0.00045
NM_207361.6(FREM2):c.*1597A>G rs886050197 0.00045
NM_025074.7(FRAS1):c.8443+8A>G rs373820698 0.00043
NM_025074.7(FRAS1):c.*1444T>C rs569011445 0.00042
NM_025074.7(FRAS1):c.*374C>T rs560026397 0.00042
NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=) rs376458338 0.00041
NM_025074.7(FRAS1):c.*219T>C rs145739907 0.00039
NM_207361.6(FREM2):c.*4225A>G rs571781749 0.00039
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_001366722.1(GRIP1):c.*1262T>A rs886049791 0.00035
NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile) rs201131604 0.00035
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) rs200888184 0.00035
NM_001366722.1(GRIP1):c.2870G>A (p.Arg957His) rs202030145 0.00034
NM_207361.6(FREM2):c.8196C>T (p.Ser2732=) rs151062281 0.00034
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.11637T>C (p.Asn3879=) rs147734882 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu) rs202043019 0.00029
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr) rs200983871 0.00029
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) rs181564966 0.00028
NM_001366722.1(GRIP1):c.1688-6T>C rs111776176 0.00027
NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) rs200203389 0.00027
NM_001366722.1(GRIP1):c.1428G>A (p.Thr476=) rs202009431 0.00026
NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn) rs373074293 0.00026
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00026
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp) rs200898675 0.00026
NM_001366722.1(GRIP1):c.*85_*87dup rs553542220 0.00025
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_207361.6(FREM2):c.*6104G>A rs145810460 0.00025
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_007156.5(ZXDA):c.403_404del (p.Cys135fs) rs753063356 0.00023
NM_025074.7(FRAS1):c.*1384C>T rs771590846 0.00022
NM_025074.7(FRAS1):c.*2261C>T rs886059654 0.00022
NM_025074.7(FRAS1):c.*880C>A rs886059649 0.00022
NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu) rs202092409 0.00022
NM_207361.6(FREM2):c.6020-13C>T rs200860319 0.00022
NM_025074.7(FRAS1):c.10724T>C (p.Ile3575Thr) rs202198985 0.00021
NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=) rs373149321 0.00021
NM_025074.7(FRAS1):c.7238T>C (p.Ile2413Thr) rs199596557 0.00021
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.9418A>G (p.Ser3140Gly) rs199853872 0.00020
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.8985C>T (p.His2995=) rs201241555 0.00019
NM_207361.6(FREM2):c.*4733T>C rs776479793 0.00019
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00019
NM_207361.6(FREM2):c.4975G>A (p.Ala1659Thr) rs114440488 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_025074.7(FRAS1):c.2647G>A (p.Val883Met) rs377068014 0.00017
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) rs200166354 0.00017
NM_207361.6(FREM2):c.*1121G>A rs139762843 0.00017
NM_001366722.1(GRIP1):c.*667C>T rs191784180 0.00016
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) rs201410285 0.00016
NM_025074.7(FRAS1):c.4679-9C>T rs541669781 0.00016
NM_025074.7(FRAS1):c.809G>A (p.Arg270His) rs374688692 0.00016
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.7366G>A (p.Asp2456Asn) rs138539682 0.00016
NM_207361.6(FREM2):c.8172T>A (p.Leu2724=) rs201065518 0.00016
NM_001366722.1(GRIP1):c.*1287A>T rs544816589 0.00015
NM_001366722.1(GRIP1):c.*4C>T rs367666328 0.00015
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn) rs373601771 0.00015
NM_025074.7(FRAS1):c.11682G>A (p.Ala3894=) rs376389151 0.00015
NM_025074.7(FRAS1):c.1796C>T (p.Ala599Val) rs368186922 0.00015
NM_001366722.1(GRIP1):c.*716T>C rs531925092 0.00014
NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu) rs200171461 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_001366722.1(GRIP1):c.*1495_*1497dup rs553937765 0.00013
NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile) rs199936956 0.00013
NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=) rs372970620 0.00013
NM_025074.7(FRAS1):c.*1810C>T rs1029985381 0.00013
NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=) rs372802938 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.*5552C>T rs886050214 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_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_207361.6(FREM2):c.7332C>T (p.Asp2444=) rs773197293 0.00013
NM_025074.7(FRAS1):c.*460A>G rs760216437 0.00012
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00012
NM_025074.7(FRAS1):c.7522+12C>G rs188066525 0.00012
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.4886A>G (p.Tyr1629Cys) rs553816676 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_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) rs367799104 0.00011
NM_001366722.1(GRIP1):c.345C>T (p.Asp115=) rs760613522 0.00011
NM_001366722.1(GRIP1):c.92A>G (p.Lys31Arg) rs200713915 0.00011
NM_025074.7(FRAS1):c.*1578T>C rs776119595 0.00011
NM_025074.7(FRAS1):c.*1787G>A rs549532188 0.00011
NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln) rs552676865 0.00011
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00011
NM_207361.6(FREM2):c.*1666_*1667del rs534520921 0.00011
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_025074.7(FRAS1):c.227T>G (p.Leu76Arg) rs199745197 0.00010
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4737G>A (p.Pro1579=) rs373137263 0.00010
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.2075G>A (p.Arg692His) rs367642497 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_001366722.1(GRIP1):c.1794C>A (p.Asp598Glu) rs371673578 0.00009
NM_001366722.1(GRIP1):c.3199G>C (p.Val1067Leu) rs116894395 0.00009
NM_025074.7(FRAS1):c.*2369C>T rs959327675 0.00009
NM_025074.7(FRAS1):c.*415A>G rs759045899 0.00009
NM_025074.7(FRAS1):c.*761A>G rs975095044 0.00009
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) rs137923783 0.00009
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) rs376814395 0.00009
NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr) rs200123398 0.00009
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.8061G>A (p.Gly2687=) rs147947821 0.00008
NM_025074.7(FRAS1):c.*2091T>C rs764203320 0.00007
NM_025074.7(FRAS1):c.*2957T>A rs553394027 0.00007
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.2939A>G (p.Tyr980Cys) rs570962669 0.00007
NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His) rs377717035 0.00007
NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=) rs370597256 0.00007
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) rs375885501 0.00007
NM_207361.6(FREM2):c.*660A>G rs80169494 0.00007
NM_207361.6(FREM2):c.736G>A (p.Gly246Arg) rs547302858 0.00007
NM_001366722.1(GRIP1):c.*1019C>T rs1345779940 0.00006
NM_001366722.1(GRIP1):c.*235G>T rs886049796 0.00006
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) rs540468070 0.00006
NM_001366722.1(GRIP1):c.3222C>T (p.Ser1074=) rs558365010 0.00006
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) rs542462169 0.00006
NM_025074.7(FRAS1):c.*1613C>T rs952918668 0.00006
NM_025074.7(FRAS1):c.10129G>A (p.Val3377Ile) rs573489939 0.00006
NM_025074.7(FRAS1):c.10390-6C>T rs139412411 0.00006
NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=) rs778772211 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_025074.7(FRAS1):c.3567A>G (p.Lys1189=) rs778818485 0.00006
NM_025074.7(FRAS1):c.4367T>C (p.Ile1456Thr) rs560902495 0.00006
NM_025074.7(FRAS1):c.4678+5T>C rs76993002 0.00006
NM_025074.7(FRAS1):c.524G>A (p.Ser175Asn) rs772288910 0.00006
NM_025074.7(FRAS1):c.5756G>A (p.Ser1919Asn) rs763355889 0.00006
NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=) rs373744776 0.00006
NM_025074.7(FRAS1):c.903G>A (p.Ser301=) rs373613705 0.00006
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.1369C>G (p.Leu457Val) rs141900626 0.00006
NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys) rs201457616 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.5059G>T (p.Glu1687Ter) rs148965852 0.00006
NM_207361.6(FREM2):c.5060A>C (p.Glu1687Ala) rs143708269 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.*611T>C rs984899547 0.00005
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.1256-12C>T rs370606261 0.00005
NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu) rs778174997 0.00005
NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=) rs886059635 0.00005
NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys) rs773283272 0.00005
NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=) rs372900422 0.00005
NM_025074.7(FRAS1):c.8605-7C>T rs765550592 0.00005
NM_025074.7(FRAS1):c.885C>T (p.Asp295=) rs562224966 0.00005
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) rs779931297 0.00005
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr) rs145189350 0.00005
NM_207361.6(FREM2):c.2093G>A (p.Arg698His) rs201217034 0.00005
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_001366722.1(GRIP1):c.236G>A (p.Arg79Lys) rs375701385 0.00004
NM_001366722.1(GRIP1):c.2793G>A (p.Ser931=) rs371224677 0.00004
NM_025074.7(FRAS1):c.*117C>T rs886059647 0.00004
NM_025074.7(FRAS1):c.*1741T>G rs772863115 0.00004
NM_025074.7(FRAS1):c.*2294G>A rs988779314 0.00004
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.10610G>A (p.Arg3537His) rs547089905 0.00004
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser) rs576835969 0.00004
NM_025074.7(FRAS1):c.11726C>T (p.Ala3909Val) rs367860092 0.00004
NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg) rs767882606 0.00004
NM_025074.7(FRAS1):c.3649-9A>C rs763538373 0.00004
NM_025074.7(FRAS1):c.371G>A (p.Arg124Gln) rs200764508 0.00004
NM_025074.7(FRAS1):c.4255G>A (p.Val1419Ile) rs570825961 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.5218-9C>T rs369761349 0.00004
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) rs373432682 0.00004
NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=) rs569422992 0.00004
NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=) rs765455808 0.00004
NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=) rs200879198 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.8613C>G (p.Thr2871=) rs758106272 0.00004
NM_025074.7(FRAS1):c.8642C>T (p.Pro2881Leu) rs779660887 0.00004
NM_025074.7(FRAS1):c.8705C>T (p.Thr2902Ile) rs757116242 0.00004
NM_025074.7(FRAS1):c.8725A>T (p.Ile2909Phe) rs367742749 0.00004
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.1394C>T (p.Pro465Leu) rs755744742 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.5276T>C (p.Leu1759Ser) rs750450348 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_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_001366722.1(GRIP1):c.*1149A>G rs144864808 0.00003
NM_001366722.1(GRIP1):c.1583A>G (p.Asn528Ser) rs374486330 0.00003
NM_001366722.1(GRIP1):c.1880A>G (p.Asp627Gly) rs200069844 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_001366722.1(GRIP1):c.3304T>A (p.Trp1102Arg) rs536657259 0.00003
NM_025074.7(FRAS1):c.*1666G>A rs1374310535 0.00003
NM_025074.7(FRAS1):c.*1752T>C rs762849572 0.00003
NM_025074.7(FRAS1):c.*5G>A rs764066985 0.00003
NM_025074.7(FRAS1):c.*84A>G rs886059646 0.00003
NM_025074.7(FRAS1):c.*957G>C rs886059650 0.00003
NM_025074.7(FRAS1):c.-18G>T rs750662462 0.00003
NM_025074.7(FRAS1):c.-233A>T rs566584457 0.00003
NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=) rs182887871 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.11925C>T (p.Asn3975=) rs368578398 0.00003
NM_025074.7(FRAS1):c.2328C>T (p.Cys776=) rs776037240 0.00003
NM_025074.7(FRAS1):c.2433C>T (p.His811=) rs756276943 0.00003
NM_025074.7(FRAS1):c.3152-10T>C rs776449329 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.5056A>C (p.Ile1686Leu) rs748832101 0.00003
NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg) rs997260986 0.00003
NM_025074.7(FRAS1):c.6681C>G (p.Asp2227Glu) rs776374326 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.7744A>C (p.Asn2582His) rs774114715 0.00003
NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser) rs117838818 0.00003
NM_025074.7(FRAS1):c.8440G>A (p.Ala2814Thr) rs559602357 0.00003
NM_025074.7(FRAS1):c.8515C>T (p.Arg2839Trp) rs373073168 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_025074.7(FRAS1):c.9505-4G>A rs367680303 0.00003
NM_025074.7(FRAS1):c.9658G>A (p.Gly3220Ser) rs552881646 0.00003
NM_207361.6(FREM2):c.*2458G>C rs886050203 0.00003
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.2207G>A (p.Arg736Gln) rs201173265 0.00003
NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu) rs369891021 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.9125A>G (p.Lys3042Arg) rs200408567 0.00003
NM_001366722.1(GRIP1):c.*1328G>A rs886049790 0.00002
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_024792.3(TLCD3A):c.263C>T (p.Ser88Leu) rs756022306 0.00002
NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser) rs775451018 0.00002
NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr) rs375807410 0.00002
NM_025074.7(FRAS1):c.1250C>T (p.Thr417Ile) rs1727405834 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.384A>G (p.Gln128=) rs566690413 0.00002
NM_025074.7(FRAS1):c.4555C>T (p.Arg1519Trp) rs761970312 0.00002
NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=) rs773736914 0.00002
NM_025074.7(FRAS1):c.5516C>T (p.Ala1839Val) rs769089211 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.9724C>T (p.Arg3242Trp) rs765238008 0.00002
NM_032881.3(LSM10):c.112G>A (p.Val38Met) rs374549440 0.00002
NM_207361.6(FREM2):c.*589G>A rs546650789 0.00002
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile) rs746265965 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.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.7800C>T (p.Thr2600=) rs116030904 0.00002
NM_207361.6(FREM2):c.8451A>C (p.Pro2817=) rs201533042 0.00002
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser) rs555402630 0.00002
NM_001366722.1(GRIP1):c.*821T>G rs867272684 0.00001
NM_001366722.1(GRIP1):c.*93A>G rs1284400061 0.00001
NM_001366722.1(GRIP1):c.1269G>A (p.Gly423=) rs539858835 0.00001
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) rs753454152 0.00001
NM_001366722.1(GRIP1):c.1471G>A (p.Val491Met) rs745834706 0.00001
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) rs760273176 0.00001
NM_001366722.1(GRIP1):c.2849G>A (p.Arg950Gln) rs755528209 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_014336.5(AIPL1):c.773G>A (p.Arg258Gln) rs751881283 0.00001
NM_016194.4(GNB5):c.391G>A (p.Val131Met) rs1253307264 0.00001
NM_025074.7(FRAS1):c.*1303G>A rs1167568461 0.00001
NM_025074.7(FRAS1):c.*1345C>T rs886059652 0.00001
NM_025074.7(FRAS1):c.*1698G>C rs1303968996 0.00001
NM_025074.7(FRAS1):c.*2028C>G rs1027128705 0.00001
NM_025074.7(FRAS1):c.*2223G>A rs1722113270 0.00001
NM_025074.7(FRAS1):c.*2512C>T rs886059656 0.00001
NM_025074.7(FRAS1):c.*2941A>T rs1259558413 0.00001
NM_025074.7(FRAS1):c.*2951A>T rs1722136952 0.00001
NM_025074.7(FRAS1):c.*319A>G rs1722048477 0.00001
NM_025074.7(FRAS1):c.*824T>G rs1218870035 0.00001
NM_025074.7(FRAS1):c.*926C>T rs1227739524 0.00001
NM_025074.7(FRAS1):c.-185G>T rs559206528 0.00001
NM_025074.7(FRAS1):c.-245C>G rs886059623 0.00001
NM_025074.7(FRAS1):c.10390-5G>A rs753366978 0.00001
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) rs748159035 0.00001
NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys) rs755221317 0.00001
NM_025074.7(FRAS1):c.11252G>A (p.Gly3751Glu) rs1484025134 0.00001
NM_025074.7(FRAS1):c.11299-8A>C rs368551584 0.00001
NM_025074.7(FRAS1):c.11559G>A (p.Arg3853=) rs989874672 0.00001
NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu) rs368792355 0.00001
NM_025074.7(FRAS1):c.118A>C (p.Ile40Leu) rs751533644 0.00001
NM_025074.7(FRAS1):c.1270G>C (p.Asp424His) rs775737013 0.00001
NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln) rs369973948 0.00001
NM_025074.7(FRAS1):c.1486G>T (p.Val496Leu) rs201490843 0.00001
NM_025074.7(FRAS1):c.1528T>C (p.Cys510Arg) rs141063284 0.00001
NM_025074.7(FRAS1):c.1897C>T (p.Arg633Cys) rs370349229 0.00001
NM_025074.7(FRAS1):c.1905C>T (p.Gly635=) rs1406270521 0.00001
NM_025074.7(FRAS1):c.1914G>A (p.Leu638=) rs778155926 0.00001
NM_025074.7(FRAS1):c.195C>T (p.Asn65=) rs200429476 0.00001
NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly) rs781560608 0.00001
NM_025074.7(FRAS1):c.2870-5T>C rs768834170 0.00001
NM_025074.7(FRAS1):c.3048T>C (p.His1016=) rs886059631 0.00001
NM_025074.7(FRAS1):c.3523G>A (p.Glu1175Lys) rs746130442 0.00001
NM_025074.7(FRAS1):c.3529A>C (p.Lys1177Gln) rs769982793 0.00001
NM_025074.7(FRAS1):c.446G>A (p.Cys149Tyr) rs769003850 0.00001
NM_025074.7(FRAS1):c.4578C>G (p.Ile1526Met) rs757959583 0.00001
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) rs566595838 0.00001
NM_025074.7(FRAS1):c.47A>C (p.Glu16Ala) rs554995505 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.6684G>A (p.Gln2228=) rs759150629 0.00001
NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=) rs761562615 0.00001
NM_025074.7(FRAS1):c.6727C>T (p.Pro2243Ser) rs764783509 0.00001
NM_025074.7(FRAS1):c.7030-3C>G rs1254762800 0.00001
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) rs865839705 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys) rs1719826004 0.00001
NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg) rs576372683 0.00001
NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp) rs367972398 0.00001
NM_025074.7(FRAS1):c.8125A>G (p.Ile2709Val) rs762129626 0.00001
NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=) rs773905369 0.00001
NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=) rs778885038 0.00001
NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=) rs749014065 0.00001
NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg) rs771808832 0.00001
NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=) rs778096225 0.00001
NM_025074.7(FRAS1):c.9538G>A (p.Glu3180Lys) rs369950838 0.00001
NM_025074.7(FRAS1):c.9541G>A (p.Val3181Ile) rs1464507728 0.00001
NM_025074.7(FRAS1):c.9607G>A (p.Asp3203Asn) rs540286890 0.00001
NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=) rs761161131 0.00001
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.3712A>G (p.Ile1238Val) rs776875620 0.00001
NM_207361.6(FREM2):c.3737C>T (p.Thr1246Met) rs201865313 0.00001
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys) rs1437152125 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.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.6852G>T (p.Lys2284Asn) rs772357847 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.8342G>A (p.Arg2781His) rs756570666 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_000049.4(ASPA):c.806C>T (p.Thr269Met) rs773849106
NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser) rs560545893
NM_001366722.1(GRIP1):c.*1216G>T rs2054042410
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_001366722.1(GRIP1):c.*1388_*1390dup rs886049789
NM_001366722.1(GRIP1):c.*1422_*1426del rs886049788
NM_001366722.1(GRIP1):c.*1511G>A rs760559161
NM_001366722.1(GRIP1):c.*1548_*1551dup rs886049787
NM_001366722.1(GRIP1):c.*1559dup rs886049786
NM_001366722.1(GRIP1):c.*228C>A rs1344322970
NM_001366722.1(GRIP1):c.*417G>A rs886049795
NM_001366722.1(GRIP1):c.*679dup rs367709432
NM_001366722.1(GRIP1):c.*723_*725dup rs886049794
NM_001366722.1(GRIP1):c.*735_*738dup rs551666983
NM_001366722.1(GRIP1):c.*752TAT[3] rs148302164
NM_001366722.1(GRIP1):c.*753_*757del rs886049793
NM_001366722.1(GRIP1):c.*832G>C rs2054060318
NM_001366722.1(GRIP1):c.*915T>C rs886049792
NM_001366722.1(GRIP1):c.1115A>G (p.Asn372Ser) rs777164145
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=) rs886049797
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.240A>G (p.Val80=) rs886049799
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu) rs1244319253
NM_001366722.1(GRIP1):c.270T>C (p.Ala90=) rs867711989
NM_001366722.1(GRIP1):c.2814T>C (p.Asn938=) rs2055525326
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala) rs568959118
NM_001366722.1(GRIP1):c.421G>A (p.Val141Met)
NM_001366722.1(GRIP1):c.553G>A (p.Val185Ile) rs754804786
NM_001366722.1(GRIP1):c.730G>A (p.Val244Met) rs2059260334
NM_001366722.1(GRIP1):c.815G>T (p.Cys272Phe)
NM_001366722.1(GRIP1):c.820A>G (p.Asn274Asp) rs2059257106
NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala) rs1774628358
NM_014739.3(BCLAF1):c.-114-2_-114-1insC rs1784536674
NM_016098.4(MPC1):c.301C>T (p.His101Tyr) rs200694745
NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro) rs561853521
NM_025074.7(FRAS1):c.*1210G>A rs886059651
NM_025074.7(FRAS1):c.*122C>T rs886059648
NM_025074.7(FRAS1):c.*1616C>T rs1722098731
NM_025074.7(FRAS1):c.*1669A>C rs886059653
NM_025074.7(FRAS1):c.*221G>A rs748263373
NM_025074.7(FRAS1):c.*2350C>T rs886059655
NM_025074.7(FRAS1):c.*455C>T rs774956318
NM_025074.7(FRAS1):c.*530G>A rs544866402
NM_025074.7(FRAS1):c.*893C>G rs563929109
NM_025074.7(FRAS1):c.*897T>G rs1722072306
NM_025074.7(FRAS1):c.*985G>A rs1722075087
NM_025074.7(FRAS1):c.-188C>T rs886059624
NM_025074.7(FRAS1):c.-422C>G rs886059622
NM_025074.7(FRAS1):c.10014-14del rs779194826
NM_025074.7(FRAS1):c.10140T>A (p.Asn3380Lys) rs753588022
NM_025074.7(FRAS1):c.10174+1G>A rs1560420794
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) rs377102088
NM_025074.7(FRAS1):c.10442C>T (p.Ser3481Phe) rs886059640
NM_025074.7(FRAS1):c.10648+13C>A rs886059641
NM_025074.7(FRAS1):c.10648+24_10648+25del rs397994139
NM_025074.7(FRAS1):c.10689A>T (p.Lys3563Asn) rs886059643
NM_025074.7(FRAS1):c.10743A>G (p.Leu3581=) rs886059644
NM_025074.7(FRAS1):c.10809-11C>T rs1721539751
NM_025074.7(FRAS1):c.10809-12G>T rs886059645
NM_025074.7(FRAS1):c.1087A>G (p.Ser363Gly) rs1404338156
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.11237A>C (p.Glu3746Ala) rs1721910256
NM_025074.7(FRAS1):c.11475G>C (p.Gln3825His) rs1722015455
NM_025074.7(FRAS1):c.11510G>C (p.Gly3837Ala) rs1722017063
NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=) rs763508870
NM_025074.7(FRAS1):c.1186T>C (p.Cys396Arg) rs138103912
NM_025074.7(FRAS1):c.1371T>C (p.Gly457=) rs746772122
NM_025074.7(FRAS1):c.1598A>T (p.Asp533Val) rs886059629
NM_025074.7(FRAS1):c.1650C>A (p.Gly550=) rs1728870513
NM_025074.7(FRAS1):c.1682G>A (p.Cys561Tyr)
NM_025074.7(FRAS1):c.1722G>T (p.Arg574Ser) rs886059630
NM_025074.7(FRAS1):c.1766G>A (p.Cys589Tyr) rs1729214191
NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly) rs1729217009
NM_025074.7(FRAS1):c.1820-11C>T rs117925872
NM_025074.7(FRAS1):c.1848T>C (p.Ser616=) rs878902352
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr) rs199542867
NM_025074.7(FRAS1):c.1885C>G (p.Pro629Ala) rs765144262
NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr) rs369605412
NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro) rs369605412
NM_025074.7(FRAS1):c.2375C>A (p.Thr792Asn) rs1037965937
NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=)
NM_025074.7(FRAS1):c.2818G>C (p.Glu940Gln) rs573458782
NM_025074.7(FRAS1):c.2827G>A (p.Ala943Thr)
NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val) rs1704836684
NM_025074.7(FRAS1):c.2934T>G (p.Asp978Glu) rs1466526912
NM_025074.7(FRAS1):c.2935G>T (p.Gly979Cys) rs538621809
NM_025074.7(FRAS1):c.3128A>G (p.Asp1043Gly) rs886059632
NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys) rs375063448
NM_025074.7(FRAS1):c.3286T>C (p.Cys1096Arg) rs765732994
NM_025074.7(FRAS1):c.3569G>T (p.Gly1190Val) rs772679809
NM_025074.7(FRAS1):c.3648+12G>A rs764016097
NM_025074.7(FRAS1):c.3824C>G (p.Pro1275Arg) rs1732266097
NM_025074.7(FRAS1):c.3873T>C (p.Tyr1291=) rs1732268531
NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=)
NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=)
NM_025074.7(FRAS1):c.4009A>G (p.Met1337Val) rs765572525
NM_025074.7(FRAS1):c.4019T>C (p.Val1340Ala) rs1578299894
NM_025074.7(FRAS1):c.4540+752A>G
NM_025074.7(FRAS1):c.4556G>A (p.Arg1519Gln) rs751175883
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) rs770386832
NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser)
NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys)
NM_025074.7(FRAS1):c.5034T>C (p.Ser1678=) rs1329723132
NM_025074.7(FRAS1):c.5069A>G (p.Asp1690Gly)
NM_025074.7(FRAS1):c.5205C>A (p.His1735Gln) rs533608491
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg) rs200477457
NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val)
NM_025074.7(FRAS1):c.5670T>C (p.Asp1890=) rs1718788319
NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile)
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.5865C>T (p.Asn1955=) rs201750748
NM_025074.7(FRAS1):c.604-11T>A rs886059626
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln) rs1718978389
NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr)
NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=) rs886059633
NM_025074.7(FRAS1):c.7219A>T (p.Thr2407Ser) rs886059634
NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)
NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=) rs759674249
NM_025074.7(FRAS1):c.76+5G>A rs886059625
NM_025074.7(FRAS1):c.763G>A (p.Ala255Thr) rs886059627
NM_025074.7(FRAS1):c.77-9T>C rs1740016134
NM_025074.7(FRAS1):c.8002A>G (p.Asn2668Asp) rs760944447
NM_025074.7(FRAS1):c.826G>A (p.Glu276Lys) rs886059628
NM_025074.7(FRAS1):c.8329T>C (p.Ser2777Pro) rs773401610
NM_025074.7(FRAS1):c.8440G>T (p.Ala2814Ser) rs559602357
NM_025074.7(FRAS1):c.8441C>T (p.Ala2814Val) rs886059636
NM_025074.7(FRAS1):c.8444-15T>C rs373332959
NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys)
NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys)
NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val)
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920
NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala)
NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu)
NM_025074.7(FRAS1):c.9111A>G (p.Glu3037=) rs1720523467
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) rs754878371
NM_025074.7(FRAS1):c.9478A>G (p.Ser3160Gly) rs763114326
NM_025074.7(FRAS1):c.9602C>T (p.Pro3201Leu) rs886059638
NM_025074.7(FRAS1):c.9621del (p.Arg3208fs) rs1560418388
NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser)
NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg)
NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp) rs758877751
NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys) rs141442936
NM_207361.6(FREM2):c.*1148A>G rs368600284
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.*1897CCTTT[3] rs886050201
NM_207361.6(FREM2):c.*2113T>C rs886050202
NM_207361.6(FREM2):c.*224G>A rs575095989
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.*3718A>G rs886050208
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.*5530TTG[1] rs886050212
NM_207361.6(FREM2):c.*5552CA[6] rs886050213
NM_207361.6(FREM2):c.*5590TA[6] rs34936389
NM_207361.6(FREM2):c.*5600GA[7] rs5802960
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.*5870del rs886050220
NM_207361.6(FREM2):c.*6098A>G rs1878750161
NM_207361.6(FREM2):c.*6148_*6151del rs886050221
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.1192C>G (p.Pro398Ala) rs372777373
NM_207361.6(FREM2):c.135G>T (p.Pro45=) rs886050186
NM_207361.6(FREM2):c.175G>C (p.Gly59Arg) rs886050187
NM_207361.6(FREM2):c.176G>C (p.Gly59Ala) rs115327344
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.215T>C (p.Ile72Thr)
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.2580T>C (p.Asp860=) rs1869737400
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.3389G>A (p.Gly1130Glu) rs1453406056
NM_207361.6(FREM2):c.3419A>G (p.Asp1140Gly)
NM_207361.6(FREM2):c.3738G>A (p.Thr1246=) rs530142447
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His) rs371827710
NM_207361.6(FREM2):c.3983T>C (p.Met1328Thr) rs780268243
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.4588G>C (p.Asp1530His) rs886043214
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
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.5059_5060inv (p.Glu1687Ser)
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.6019+7A>C rs768376629
NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly) rs9548505
NM_207361.6(FREM2):c.6380-15C>G rs1877307671
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg) rs886042926
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) rs143576067
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.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.8144G>A (p.Gly2715Glu) rs2137934211
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp) rs1869591293
NM_207361.6(FREM2):c.8901T>C (p.Asn2967=) rs1878445288

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