ClinVar Miner

List of variants in gene FGFR2 studied for Crouzon syndrome

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Total variants: 91
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HGVS dbSNP
NM_022970.3(FGFR2):c.*1070T>C rs886046761
NM_022970.3(FGFR2):c.*111G>A rs574474794
NM_022970.3(FGFR2):c.*1126T>C rs370106008
NM_022970.3(FGFR2):c.*1287A>C rs886046760
NM_022970.3(FGFR2):c.*1301C>T rs71640261
NM_022970.3(FGFR2):c.*1319A>G rs3135830
NM_022970.3(FGFR2):c.*1369C>T rs886046759
NM_022970.3(FGFR2):c.*1402T>C rs886046758
NM_022970.3(FGFR2):c.*1489C>T rs886046757
NM_022970.3(FGFR2):c.*1498_*1502del rs566259479
NM_022970.3(FGFR2):c.*184C>T rs4647917
NM_022970.3(FGFR2):c.*197del rs748777325
NM_022970.3(FGFR2):c.*259C>T rs1047057
NM_022970.3(FGFR2):c.*324A>G rs150519853
NM_022970.3(FGFR2):c.*403A>G rs3135826
NM_022970.3(FGFR2):c.*469G>A rs41294351
NM_022970.3(FGFR2):c.*497T>C rs3135827
NM_022970.3(FGFR2):c.*641_*644del rs548465887
NM_022970.3(FGFR2):c.*674G>T rs566155088
NM_022970.3(FGFR2):c.*736dup rs886046762
NM_022970.3(FGFR2):c.*921G>A rs185617859
NM_022970.3(FGFR2):c.-128G>A rs547739869
NM_022970.3(FGFR2):c.-129C>T rs886046765
NM_022970.3(FGFR2):c.-135C>T rs554557891
NM_022970.3(FGFR2):c.-157A>G rs41258305
NM_022970.3(FGFR2):c.-165G>A rs886046766
NM_022970.3(FGFR2):c.-236G>A rs1047111
NM_022970.3(FGFR2):c.-236G>C rs1047111
NM_022970.3(FGFR2):c.-298_-297dup rs41301549
NM_022970.3(FGFR2):c.-318G>C rs41301547
NM_022970.3(FGFR2):c.-358C>T rs41301545
NM_022970.3(FGFR2):c.-371C>T rs527570655
NM_022970.3(FGFR2):c.-458C>A rs41301043
NM_022970.3(FGFR2):c.-46G>A rs201606812
NM_022970.3(FGFR2):c.-535G>C rs886046767
NM_022970.3(FGFR2):c.-622G>A rs886046768
NM_022970.3(FGFR2):c.-74G>A rs4647922
NM_022970.3(FGFR2):c.1087+1262A>G rs121918493
NM_022970.3(FGFR2):c.1087+1286A>G rs1057519042
NM_022970.3(FGFR2):c.1087+1288G>C rs387906676
NM_022970.3(FGFR2):c.1087+1291G>C rs1057519043
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044
NM_022970.3(FGFR2):c.1087+1297T>C rs121918489
NM_022970.3(FGFR2):c.1087+1303T>A rs121918488
NM_022970.3(FGFR2):c.1087+1303T>C rs121918488
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1305C>G rs121918496
NM_022970.3(FGFR2):c.1087+1310C>G rs121918492
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1087+1319C>G rs121918494
NM_022970.3(FGFR2):c.1087+1340C>G rs121918490
NM_022970.3(FGFR2):c.1087+1366A>G rs879253721
NM_022970.3(FGFR2):c.1088-13A>T rs41295573
NM_022970.3(FGFR2):c.109+10T>G rs3135722
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1182A>T (p.Val394=) rs886046763
NM_022970.3(FGFR2):c.1242G>A (p.Pro414=) rs147674677
NM_022970.3(FGFR2):c.1542C>A (p.Thr514=) rs74160617
NM_022970.3(FGFR2):c.1551G>A (p.Val517=) rs200522893
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.1579A>G (p.Lys527Glu) rs121918507
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1648A>C (p.Asn550His) rs1057519045
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.1777C>T (p.Arg593Cys) rs141929882
NM_022970.3(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_022970.3(FGFR2):c.1944C>T (p.Leu648=) rs35337478
NM_022970.3(FGFR2):c.2004C>G (p.Val668=) rs61731218
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.2418C>T (p.Tyr806=) rs558460047
NM_022970.3(FGFR2):c.2419G>A (p.Glu807Lys) rs764959117
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.557T>C (p.Met186Thr) rs755793
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_022970.3(FGFR2):c.755C>T (p.Ser252Leu) rs79184941
NM_022970.3(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_022970.3(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_022970.3(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_022970.3(FGFR2):c.842A>G (p.Tyr281Cys) rs1057519038
NM_022970.3(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_022970.3(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_022970.3(FGFR2):c.868T>G (p.Trp290Gly) rs121918501
NM_022970.3(FGFR2):c.869G>C (p.Trp290Ser) rs1057519039
NM_022970.3(FGFR2):c.874A>G (p.Lys292Glu) rs121918500
NM_022970.3(FGFR2):c.879C>T (p.His293=) rs55745510
NM_022970.3(FGFR2):c.923A>G (p.Tyr308Cys) rs1057519040
NM_022970.3(FGFR2):c.939+11T>C rs145303463

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