ClinVar Miner

List of variants reported as likely benign for cryptophthalmia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.*2931del rs139811866 0.03677
NM_001366722.1(GRIP1):c.*655_*657dup rs138816960 0.01583
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.*2672A>G rs144020017 0.01027
NM_207361.6(FREM2):c.*3731A>C rs41286133 0.01007
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.*1539C>T rs41286131 0.00866
NM_207361.6(FREM2):c.-182G>A rs142232936 0.00862
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_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
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_001366722.1(GRIP1):c.*1314G>A rs144894732 0.00409
NM_207361.6(FREM2):c.*6265G>A rs149647289 0.00397
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.4319C>A (p.Thr1440Lys) rs79048205 0.00348
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_025074.7(FRAS1):c.*3142G>T rs183140136 0.00334
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_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) rs183398121 0.00302
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.*2390_*2392del rs149897768 0.00283
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_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=) rs151307846 0.00264
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) rs17003166 0.00252
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) rs56291926 0.00241
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=) rs142389362 0.00240
NM_207361.6(FREM2):c.*1050G>A rs146348438 0.00239
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_025074.7(FRAS1):c.201A>G (p.Gln67=) rs117876433 0.00210
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_025074.7(FRAS1):c.1108-12T>G rs150372637 0.00183
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
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_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val) rs201867922 0.00148
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_207361.6(FREM2):c.595G>T (p.Ala199Ser) rs151296346 0.00134
NM_025074.7(FRAS1):c.*2324G>A rs186095111 0.00125
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=) rs201188262 0.00122
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=) rs372154997 0.00112
NM_025074.7(FRAS1):c.6763+12A>G rs185282133 0.00105
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) rs150680111 0.00080
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) rs149692526 0.00071
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_207361.6(FREM2):c.*3136G>A rs192657481 0.00059
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00052
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=) rs183724131 0.00045
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.1820-11C>G rs117925872 0.00034
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_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr) rs190810317 0.00029
NM_025074.7(FRAS1):c.10649-18T>C rs183886250 0.00028
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr) rs201252328 0.00025
NM_001366722.1(GRIP1):c.*234G>A rs541596282 0.00024
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=) rs375278138 0.00024
NM_001366722.1(GRIP1):c.1687+12T>C rs151041073 0.00023
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_207361.6(FREM2):c.5279C>T (p.Thr1760Met) rs114171443 0.00022
NM_001366722.1(GRIP1):c.1688-3T>C rs185129168 0.00021
NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=) rs368304108 0.00021
NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys) rs150998139 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00020
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=) rs367585112 0.00019
NM_025074.7(FRAS1):c.8058C>T (p.Asn2686=) rs767860539 0.00019
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.4362C>T (p.Ile1454=) rs367736746 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 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.783C>T (p.Cys261=) rs374802344 0.00011
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_025074.7(FRAS1):c.10425C>T (p.His3475=) rs376096303 0.00009
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.8064C>T (p.Ser2688=) rs371145937 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_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala) rs192225415 0.00006
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997 0.00006
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_025074.7(FRAS1):c.7431G>A (p.Ala2477=) rs750729569 0.00004
NM_025074.7(FRAS1):c.8397G>A (p.Ser2799=) rs113839220 0.00004
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser) rs767098305 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_001366722.1(GRIP1):c.1389G>A (p.Gly463=) rs200499586 0.00002
NM_025074.7(FRAS1):c.*391C>T rs564787250 0.00002
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=) rs367723684 0.00002
NM_025074.7(FRAS1):c.2826C>T (p.Cys942=) rs775694534 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_001366722.1(GRIP1):c.*499A>G rs572566894 0.00001
NM_025074.7(FRAS1):c.*1085C>T rs570309641 0.00001
NM_025074.7(FRAS1):c.2625C>T (p.Cys875=) rs769192947 0.00001
NM_025074.7(FRAS1):c.8486C>A (p.Ser2829Tyr) rs376788346 0.00001
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr) rs546732114 0.00001
NM_207361.6(FREM2):c.9282A>C (p.Pro3094=) rs549071375 0.00001
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_001366722.1(GRIP1):c.*1299_*1301dup rs200995788
NM_001366722.1(GRIP1):c.*1524_*1527del rs148261691
NM_001366722.1(GRIP1):c.*647_*650dup rs200677568
NM_001366722.1(GRIP1):c.*695_*697dup rs201977256
NM_001366722.1(GRIP1):c.1355-10_1355-8del rs148083271
NM_001366722.1(GRIP1):c.1787C>G (p.Pro596Arg) rs200955760
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_025074.6(FRAS1):c.*3146_*3149delTTTG rs148508826
NM_025074.7(FRAS1):c.2313G>A (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.4969+19A>T rs73831318
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_207361.6(FREM2):c.*223C>T rs115575417
NM_207361.6(FREM2):c.*2296T>C rs539188773
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.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034

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