ClinVar Miner

List of variants in gene FGFR2 reported as uncertain significance for Beare-Stevenson cutis gyrata syndrome

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.-108C>T rs540720034 0.00060
NM_000141.5(FGFR2):c.34G>A (p.Val12Met) rs143978938 0.00043
NM_000141.5(FGFR2):c.*921G>A rs185617859 0.00027
NM_000141.5(FGFR2):c.-165G>A rs886046766 0.00027
NM_000141.5(FGFR2):c.-173G>A rs540975865 0.00019
NM_000141.5(FGFR2):c.-622G>A rs886046768 0.00014
NM_000141.5(FGFR2):c.-237C>A rs1013618217 0.00012
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.*874A>G rs55723405 0.00007
NM_000141.5(FGFR2):c.*730G>C rs549293047 0.00006
NM_000141.5(FGFR2):c.-371C>T rs527570655 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494 0.00005
NM_000141.5(FGFR2):c.*1402T>C rs886046758 0.00004
NM_000141.5(FGFR2):c.-535G>C rs886046767 0.00004
NM_000141.5(FGFR2):c.143A>C (p.Glu48Ala) rs200700308 0.00004
NM_000141.5(FGFR2):c.*1126T>C rs370106008 0.00003
NM_000141.5(FGFR2):c.*1489C>T rs886046757 0.00003
NM_000141.5(FGFR2):c.*463A>G rs373313930 0.00003
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00003
NM_000141.5(FGFR2):c.1117C>T (p.Pro373Ser) rs1458741036 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_000141.4(FGFR2):c.*1539C>A rs1194799333 0.00002
NM_000141.5(FGFR2):c.-206C>A rs1238787517 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000141.5(FGFR2):c.160C>T (p.Pro54Ser) rs151126801 0.00002
NM_000141.5(FGFR2):c.2056G>A (p.Val686Ile) rs760895785 0.00002
NM_000141.5(FGFR2):c.2251A>C (p.Lys751Gln) rs757501816 0.00002
NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp) rs200766273 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.*497T>C rs3135827 0.00001
NM_000141.5(FGFR2):c.-128G>A rs547739869 0.00001
NM_000141.5(FGFR2):c.-129C>T rs886046765 0.00001
NM_000141.5(FGFR2):c.-196G>A rs1457119353 0.00001
NM_000141.5(FGFR2):c.1029G>A (p.Leu343=) rs559688816 0.00001
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=) rs757648006 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.1313T>C (p.Met438Thr) rs1346945144 0.00001
NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala) rs1187984599 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1486G>A (p.Val496Ile) rs751731391 0.00001
NM_000141.5(FGFR2):c.1637A>C (p.Asn546Thr) rs765658636 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.204C>T (p.Ala68=) rs747982371 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.293C>T (p.Thr98Met) rs1041970177 0.00001
NM_000141.5(FGFR2):c.419C>T (p.Ala140Val) rs752501698 0.00001
NM_000141.5(FGFR2):c.532C>T (p.Arg178Cys) rs974173968 0.00001
NM_000141.5(FGFR2):c.625-8C>T rs1853240523 0.00001
NM_000141.5(FGFR2):c.67C>A (p.Pro23Thr) rs1309596973 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.904G>A (p.Gly302Arg) rs1159063118 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu) rs1318903454 0.00001
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*1240A>C rs1403038230
NM_000141.5(FGFR2):c.*1283C>G rs1844298421
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*256G>A rs763095219
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-590G>C rs1221108798
NM_000141.5(FGFR2):c.-603C>T rs1863754113
NM_000141.5(FGFR2):c.1062T>A (p.Ser354=)
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=) rs1849564914
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe) rs121913478
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.119C>T (p.Thr40Ile)
NM_000141.5(FGFR2):c.1200G>A (p.Met400Ile)
NM_000141.5(FGFR2):c.1252C>G (p.Leu418Val)
NM_000141.5(FGFR2):c.1262G>A (p.Arg421His)
NM_000141.5(FGFR2):c.1303A>G (p.Ser435Gly)
NM_000141.5(FGFR2):c.1325C>T (p.Thr442Ile)
NM_000141.5(FGFR2):c.1328C>G (p.Pro443Arg)
NM_000141.5(FGFR2):c.1355C>T (p.Ser452Phe)
NM_000141.5(FGFR2):c.1367A>G (p.Asp456Gly)
NM_000141.5(FGFR2):c.1372C>A (p.Pro458Thr)
NM_000141.5(FGFR2):c.1485G>T (p.Val495=) rs1362401352
NM_000141.5(FGFR2):c.151G>A (p.Val51Met)
NM_000141.5(FGFR2):c.1531G>T (p.Ala511Ser)
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1800C>T (p.Phe600=)
NM_000141.5(FGFR2):c.1840A>G (p.Met614Val)
NM_000141.5(FGFR2):c.1907A>G (p.Glu636Gly)
NM_000141.5(FGFR2):c.1915G>A (p.Val639Met)
NM_000141.5(FGFR2):c.1957A>C (p.Asn653His)
NM_000141.5(FGFR2):c.195A>G (p.Lys65=)
NM_000141.5(FGFR2):c.1986+19C>G
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg) rs1845557012
NM_000141.5(FGFR2):c.2231C>T (p.Pro744Leu)
NM_000141.5(FGFR2):c.2240G>T (p.Arg747Ile)
NM_000141.5(FGFR2):c.2246C>T (p.Thr749Met)
NM_000141.5(FGFR2):c.2260G>A (p.Val754Ile)
NM_000141.5(FGFR2):c.2276G>A (p.Arg759Gln)
NM_000141.5(FGFR2):c.236T>G (p.Leu79Trp)
NM_000141.5(FGFR2):c.2411C>T (p.Pro804Leu)
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.248A>T (p.Asn83Ile)
NM_000141.5(FGFR2):c.257T>G (p.Val86Gly) rs1857549548
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.5(FGFR2):c.43A>C (p.Met15Leu)
NM_000141.5(FGFR2):c.556A>G (p.Met186Val)
NM_000141.5(FGFR2):c.610A>G (p.Ile204Val)
NM_000141.5(FGFR2):c.68C>A (p.Pro23His)
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser) rs1863017903
NM_000141.5(FGFR2):c.988C>T (p.Arg330Trp)
NM_022970.4(FGFR2):c.1017A>G (p.Ile339Met)

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