ClinVar Miner

List of variants reported as benign for Fraser syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 78
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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_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_207361.6(FREM2):c.*1428A>G rs9548522 0.47270
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_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041
NM_207361.6(FREM2):c.*342G>A rs9603463 0.35702
NM_207361.6(FREM2):c.*5899C>T rs1945504 0.28925
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_207361.6(FREM2):c.7984-10G>A rs9532295 0.19705
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp) rs9603422 0.14074
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_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_207361.6(FREM2):c.*1041C>T rs9548521 0.07524
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_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_207361.6(FREM2):c.*5612T>G rs200747289 0.03887
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_207361.6(FREM2):c.8226C>T (p.Ala2742=) rs17058710 0.02172
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_207361.6(FREM2):c.*1694A>G rs17443589 0.01925
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=) rs61749310 0.01827
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_207361.6(FREM2):c.954C>G (p.Pro318=) rs9576597 0.01462
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=) rs116383837 0.00953
NM_207361.6(FREM2):c.*5019A>T rs76274648 0.00943
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_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_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_207361.6(FREM2):c.*4249A>C rs116463058 0.00684
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_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_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys) rs77886481 0.00073
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
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_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.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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