ClinVar Miner

List of variants studied for Apert syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_000141.5(FGFR2):c.748+18C>T rs377269009 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.454+15G>A rs200275522 0.00010
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 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.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 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_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 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.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe) rs121918490
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
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.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1960A>G (p.Ile654Val) rs747718232
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
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.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.940-2A>C rs1057519041
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
NM_000141.5:c.940-19_940-18insAlu
NM_022970.4(FGFR2):c.1049A>G (p.Asn350Ser)

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