ClinVar Miner

List of variants reported as benign for Fraser syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_025074.7(FRAS1):c.7371+11T>C rs7664505 0.95846
NM_025074.7(FRAS1):c.604-8G>A rs2867014 0.93589
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_207361.6(FREM2):c.*5491G>A rs2226913 0.73809
NM_207361.6(FREM2):c.*4465C>T rs2027770 0.73599
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_025074.7(FRAS1):c.*2489T>C rs11098227 0.64399
NM_025074.7(FRAS1):c.*2154C>T rs3811747 0.63908
NM_025074.7(FRAS1):c.*2700G>A rs11098228 0.61498
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606 0.51866
NM_025074.7(FRAS1):c.9116-11T>C rs7677541 0.51261
NM_025074.7(FRAS1):c.9116-5C>G rs7695038 0.50468
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905 0.50277
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_207361.6(FREM2):c.*1428A>G rs9548522 0.47270
NM_001366722.1(GRIP1):c.*616T>C rs1168308 0.47053
NM_207361.6(FREM2):c.*5562C>G rs1945507 0.46889
NM_207361.6(FREM2):c.*5733C>T rs1945505 0.46197
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070 0.42060
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139 0.42041
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664 0.38360
NM_207361.6(FREM2):c.*342G>A rs9603463 0.35702
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194 0.32564
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427 0.32517
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081 0.31848
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488 0.31772
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_207361.6(FREM2):c.*5899C>T rs1945504 0.28925
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_207361.6(FREM2):c.*5542T>A rs7327529 0.26970
NM_207361.6(FREM2):c.*4770C>T rs6563648 0.26840
NM_207361.6(FREM2):c.*3481G>A rs2184141 0.26619
NM_207361.6(FREM2):c.*3192T>C rs7337135 0.26600
NM_207361.6(FREM2):c.*2926G>A rs1945508 0.26131
NM_207361.6(FREM2):c.*4560G>A rs2225623 0.26118
NM_025074.7(FRAS1):c.*282A>T rs3749485 0.24962
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=) rs41327848 0.23030
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208 0.22689
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=) rs17003235 0.21846
NM_207361.6(FREM2):c.7984-10G>A rs9532295 0.19705
NM_025074.7(FRAS1):c.*33T>A rs72659058 0.18560
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_025074.7(FRAS1):c.9116-6C>T rs76630865 0.18150
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=) rs3749487 0.18004
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=) rs78575519 0.17765
NM_025074.7(FRAS1):c.-23C>T rs34237418 0.15546
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp) rs35933858 0.14412
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=) rs11933630 0.14408
NM_025074.7(FRAS1):c.10389+11C>T rs74632598 0.14352
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp) rs931605 0.14336
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp) rs9603422 0.14074
NM_025074.7(FRAS1):c.*1814G>A rs17003321 0.13590
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala) rs34670941 0.12788
NM_025074.7(FRAS1):c.*1301G>A rs3210826 0.12730
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=) rs345528 0.11760
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser) rs9548506 0.10599
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=) rs9548507 0.10596
NM_207361.6(FREM2):c.*992T>C rs9532297 0.09184
NM_207361.6(FREM2):c.*5335A>G rs9548524 0.09168
NM_025074.7(FRAS1):c.-65T>C rs6832285 0.08887
NM_025074.7(FRAS1):c.*1995G>T rs72873318 0.08697
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_207361.6(FREM2):c.*1041C>T rs9548521 0.07524
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552 0.06352
NM_207361.6(FREM2):c.2602C>G (p.Leu868Val) rs7329939 0.06144
NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys) rs58363253 0.06139
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=) rs13123710 0.05675
NM_207361.6(FREM2):c.-260A>G rs7997838 0.05375
NM_207361.6(FREM2):c.303C>A (p.Pro101=) rs8002488 0.05332
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) rs1868463 0.05268
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu) rs345512 0.04568
NM_025074.7(FRAS1):c.2575+15G>A rs79624813 0.04419
NM_025074.7(FRAS1):c.160G>C (p.Asp54His) rs17003071 0.03918
NM_207361.6(FREM2):c.*5612T>G rs200747289 0.03887
NM_025074.7(FRAS1):c.*3092A>G rs17003335 0.03563
NM_025074.7(FRAS1):c.*388C>G rs75970105 0.03561
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile) rs114373602 0.02814
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg) rs76623027 0.02812
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr) rs78404051 0.02812
NM_025074.7(FRAS1):c.6010+13C>T rs75774018 0.02805
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=) rs76472539 0.02805
NM_025074.7(FRAS1):c.6010+10G>A rs78537685 0.02804
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His) rs7682296 0.02766
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser) rs7699637 0.02763
NM_025074.7(FRAS1):c.470-4C>G rs59429199 0.02676
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=) rs77602894 0.02660
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=) rs79849142 0.02656
NM_207361.6(FREM2):c.1941C>T (p.Asp647=) rs41292751 0.02517
NM_207361.6(FREM2):c.4077T>A (p.Gly1359=) rs41292757 0.02517
NM_207361.6(FREM2):c.*5600G>T rs74793552 0.02508
NM_025074.7(FRAS1):c.*751T>G rs6832584 0.02441
NM_025074.7(FRAS1):c.6010+8A>G rs7670555 0.02371
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=) rs114956797 0.02261
NM_025074.7(FRAS1):c.*78G>T rs77632937 0.02198
NM_207361.6(FREM2):c.8226C>T (p.Ala2742=) rs17058710 0.02172
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn) rs4388111 0.02134
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_207361.6(FREM2):c.*1694A>G rs17443589 0.01925
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809 0.01892
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522 0.01873
NM_025074.7(FRAS1):c.981+9C>T rs112081709 0.01835
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=) rs61749310 0.01827
NM_025074.7(FRAS1):c.*1289G>A rs113324102 0.01731
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser) rs74510691 0.01688
NM_207361.6(FREM2):c.*1624G>A rs17443575 0.01664
NM_207361.6(FREM2):c.9429G>A (p.Gly3143=) rs41306662 0.01662
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_207361.6(FREM2):c.*3929G>T rs79571295 0.01542
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val) rs6848030 0.01516
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr) rs6838959 0.01491
NM_207361.6(FREM2):c.954C>G (p.Pro318=) rs9576597 0.01462
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=) rs35608396 0.01318
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=) rs61741742 0.01240
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=) rs149604281 0.01195
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
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.*2811T>A rs114574352 0.01027
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=) rs7660641 0.01013
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser) rs60539739 0.01012
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=) rs34678339 0.00987
NM_025074.7(FRAS1):c.8959-11A>G rs112232078 0.00985
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=) rs116383837 0.00953
NM_207361.6(FREM2):c.*5019A>T rs76274648 0.00943
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val) rs61748815 0.00933
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=) rs34806279 0.00927
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=) rs80346282 0.00915
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.4901C>T (p.Thr1634Met) rs74781600 0.00872
NM_025074.7(FRAS1):c.*708C>A rs111636328 0.00860
NM_207361.6(FREM2):c.*5344T>G rs7327183 0.00833
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_207361.6(FREM2):c.*2375C>G rs114706463 0.00802
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_025074.7(FRAS1):c.*709G>A rs115458096 0.00723
NM_025074.7(FRAS1):c.*2370G>A rs116617672 0.00710
NM_207361.6(FREM2):c.*4249A>C rs116463058 0.00684
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=) rs113301188 0.00658
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln) rs115878217 0.00648
NM_025074.7(FRAS1):c.688-13T>C rs144657066 0.00629
NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly) rs61742843 0.00597
NM_207361.6(FREM2):c.*1379T>C rs150619967 0.00573
NM_207361.6(FREM2):c.6330T>G (p.Leu2110=) rs112083916 0.00535
NM_207361.6(FREM2):c.6396C>T (p.Phe2132=) rs61745902 0.00525
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=) rs139589570 0.00463
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) rs182196851 0.00436
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr) rs114798977 0.00408
NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala) rs116742938 0.00406
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile) rs116653247 0.00384
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_025074.7(FRAS1):c.*258G>A rs114161007 0.00361
NM_001366722.1(GRIP1):c.*428C>T rs78619935 0.00225
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_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_025074.7(FRAS1):c.*503T>C rs3749484 0.00098
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys) rs77886481 0.00073
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) rs150958775 0.00029
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_207361.6(FREM2):c.6826G>A (p.Val2276Met) rs555028352 0.00002
NM_207361.6(FREM2):c.9184G>T (p.Ala3062Ser) rs140456319 0.00001
NM_001366722.1(GRIP1):c.*1261del rs35499444
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_025074.7(FRAS1):c.*2824_*2825insTTTT rs397724155
NM_025074.7(FRAS1):c.*518dup rs397752464
NM_025074.7(FRAS1):c.*731C>G rs116483248
NM_025074.7(FRAS1):c.*808C>T rs59820455
NM_025074.7(FRAS1):c.-257G>T rs78363185
NM_025074.7(FRAS1):c.10648+25del rs397994139
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg) rs147709711
NM_207361.6(FREM2):c.*1467G>A rs9548523
NM_207361.6(FREM2):c.*2140C>G rs7324632
NM_207361.6(FREM2):c.*5598T>G rs1945506
NM_207361.6(FREM2):c.*5627del rs5802961
NM_207361.6(FREM2):c.176G>A (p.Gly59Asp) rs115327344
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys) rs9548505
NM_207361.6(FREM2):c.9357G>C (p.Thr3119=) rs41306664

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