ClinVar Miner

List of variants in gene FGFR2 studied for acrocephalosyndactyly

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP
FGFR2, ALU INS
NC_000010.11:g.121478318G>T
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*111G>A rs574474794
NM_000141.5(FGFR2):c.*1126T>C rs370106008
NM_000141.5(FGFR2):c.*1240A>C
NM_000141.5(FGFR2):c.*1283C>G
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1301C>T rs71640261
NM_000141.5(FGFR2):c.*1319A>G rs3135830
NM_000141.5(FGFR2):c.*1369C>T rs886046759
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1489C>T rs886046757
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*184C>T rs4647917
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*256G>A
NM_000141.5(FGFR2):c.*259C>T rs1047057
NM_000141.5(FGFR2):c.*324A>G rs150519853
NM_000141.5(FGFR2):c.*403A>G rs3135826
NM_000141.5(FGFR2):c.*463A>G
NM_000141.5(FGFR2):c.*469G>A rs41294351
NM_000141.5(FGFR2):c.*497T>C rs3135827
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.*674G>T rs566155088
NM_000141.5(FGFR2):c.*730G>C
NM_000141.5(FGFR2):c.*736dup rs886046762
NM_000141.5(FGFR2):c.*874A>G
NM_000141.5(FGFR2):c.*921G>A rs185617859
NM_000141.5(FGFR2):c.-108C>T
NM_000141.5(FGFR2):c.-128G>A rs547739869
NM_000141.5(FGFR2):c.-129C>T rs886046765
NM_000141.5(FGFR2):c.-135C>T rs554557891
NM_000141.5(FGFR2):c.-157A>G rs41258305
NM_000141.5(FGFR2):c.-165G>A rs886046766
NM_000141.5(FGFR2):c.-173G>A
NM_000141.5(FGFR2):c.-17G>C
NM_000141.5(FGFR2):c.-196G>A
NM_000141.5(FGFR2):c.-206C>A
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-237C>A
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.-318G>C rs41301547
NM_000141.5(FGFR2):c.-358C>T rs41301545
NM_000141.5(FGFR2):c.-371C>T rs527570655
NM_000141.5(FGFR2):c.-458C>A rs41301043
NM_000141.5(FGFR2):c.-46G>A rs201606812
NM_000141.5(FGFR2):c.-535G>C rs886046767
NM_000141.5(FGFR2):c.-590G>C
NM_000141.5(FGFR2):c.-603C>T
NM_000141.5(FGFR2):c.-61G>T
NM_000141.5(FGFR2):c.-622G>A rs886046768
NM_000141.5(FGFR2):c.-626C>A
NM_000141.5(FGFR2):c.-74G>A rs4647922
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677
NM_000141.5(FGFR2):c.1485G>T (p.Val495=)
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg)
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.33C>T (p.Val11=)
NM_000141.5(FGFR2):c.454+14C>T
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793
NM_000141.5(FGFR2):c.625-8C>T
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) rs387907372
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_000141.5(FGFR2):c.818_820del (p.Asp273del) rs121918503
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) rs886037837
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser)
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302
NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACC rs1589828632
NM_022970.3(FGFR2):c.1087+1217A>G rs1057519041
NM_022970.3(FGFR2):c.1087+1218G>A rs879253719
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.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.939+11T>C rs145303463

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.