ClinVar Miner

List of variants studied for Trigonocephaly 1

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Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_023110.3(FGFR1):c.*1632A>G rs13317 0.22837
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06463
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00761
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_023110.3(FGFR1):c.-358C>T rs17175673 0.00647
NM_023110.3(FGFR1):c.*2099T>G rs16887356 0.00574
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_023110.3(FGFR1):c.*2188T>C rs146463691 0.00388
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00388
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_023110.3(FGFR1):c.*1052C>T rs17176088 0.00281
NM_023110.3(FGFR1):c.*994T>C rs17176081 0.00273
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_023110.3(FGFR1):c.*723G>C rs17182477 0.00220
NM_023110.3(FGFR1):c.*1026T>C rs542417198 0.00214
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_023110.3(FGFR1):c.*1498C>T rs17182484 0.00141
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00117
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00109
NM_023110.3(FGFR1):c.-124G>A rs17182079 0.00103
NM_023110.3(FGFR1):c.*1446A>C rs578094209 0.00076
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00071
NM_023110.3(FGFR1):c.*1770G>A rs183394116 0.00070
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00062
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_023110.3(FGFR1):c.-717C>T rs772480875 0.00052
NM_023110.3(FGFR1):c.*203G>A rs750732571 0.00051
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00044
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00040
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00040
NM_023110.3(FGFR1):c.*1211G>T rs185104092 0.00038
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00036
NM_023110.3(FGFR1):c.*1055C>T rs761124911 0.00035
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_023110.3(FGFR1):c.*2407C>T rs758524862 0.00032
NM_023110.3(FGFR1):c.*1822A>C rs570038633 0.00031
NM_023110.3(FGFR1):c.*2057C>T rs556829066 0.00031
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00025
NM_023110.3(FGFR1):c.*2391A>G rs185729862 0.00024
NM_023110.3(FGFR1):c.-263G>C rs974672416 0.00023
NM_023110.3(FGFR1):c.*1711G>A rs567642271 0.00021
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_023110.3(FGFR1):c.-270G>A rs578030717 0.00020
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00020
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_023110.3(FGFR1):c.*963C>T rs567128409 0.00016
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.*1144G>A rs886062911 0.00011
NM_023110.3(FGFR1):c.*494A>G rs562843836 0.00011
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_023110.3(FGFR1):c.*957C>T rs941835357 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.*2434C>T rs565758830 0.00007
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00005
NM_023110.2(FGFR1):c.-747C>G rs917928821 0.00004
NM_023110.3(FGFR1):c.*1676G>A rs763761019 0.00004
NM_023110.3(FGFR1):c.*252G>A rs781117513 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.*1286C>T rs886062909 0.00003
NM_023110.3(FGFR1):c.*1965G>A rs886062907 0.00003
NM_023110.3(FGFR1):c.*2408C>T rs1004230937 0.00003
NM_023110.3(FGFR1):c.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*762A>G rs886062914 0.00003
NM_023110.3(FGFR1):c.*802C>T rs938792635 0.00003
NM_023110.3(FGFR1):c.*991G>A rs866647792 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_023110.3(FGFR1):c.*1560C>T rs761096092 0.00002
NM_023110.3(FGFR1):c.*913G>A rs886062912 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.2(FGFR1):c.-755C>G rs1225240095 0.00001
NM_023110.2(FGFR1):c.-849C>A rs1050158070 0.00001
NM_023110.3(FGFR1):c.*1086A>T rs1287148499 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.*1149G>A rs923197183 0.00001
NM_023110.3(FGFR1):c.*1982A>C rs536000259 0.00001
NM_023110.3(FGFR1):c.*212G>A rs1815042970 0.00001
NM_023110.3(FGFR1):c.*231C>T rs1815036929 0.00001
NM_023110.3(FGFR1):c.*2445A>G rs1261528641 0.00001
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00001
NM_023110.3(FGFR1):c.*71A>G rs886062917 0.00001
NM_023110.3(FGFR1):c.*928G>A rs1814772534 0.00001
NM_023110.3(FGFR1):c.-444C>T rs1835972353 0.00001
NM_023110.3(FGFR1):c.-466C>T rs1835975713 0.00001
NM_023110.3(FGFR1):c.-522G>T rs1208796305 0.00001
NM_023110.3(FGFR1):c.1006G>A (p.Ala336Thr) rs981703846 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_023110.3(FGFR1):c.*1124C>G rs561923573
NM_023110.3(FGFR1):c.*118C>T rs886062916
NM_023110.3(FGFR1):c.*1218T>C rs886062910
NM_023110.3(FGFR1):c.*1616T>G rs886062908
NM_023110.3(FGFR1):c.*1723C>T rs1200256665
NM_023110.3(FGFR1):c.*1823G>A rs1814497706
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*819T>G rs1814814648
NM_023110.3(FGFR1):c.*845T>C rs886062913
NM_023110.3(FGFR1):c.*958G>A rs537880800
NM_023110.3(FGFR1):c.-116C>T rs1835923576
NM_023110.3(FGFR1):c.-117C>G rs994485282
NM_023110.3(FGFR1):c.-278C>A rs1835944475
NM_023110.3(FGFR1):c.-413G>A rs984098100
NM_023110.3(FGFR1):c.-434G>A rs941457992
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.92-3C>T rs1822349929

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