ClinVar Miner

List of variants reported as benign for Craniosynostosis syndrome

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_023110.3(FGFR1):c.*1632A>G rs13317 0.22837
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06909
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
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.345C>T (p.Ser115=) rs2915665 0.00567
NM_023110.3(FGFR1):c.*2099T>G rs16887356 0.00560
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_023110.3(FGFR1):c.*2188T>C rs146463691 0.00411
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
NM_023110.3(FGFR1):c.*994T>C rs17176081 0.00273
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_023110.3(FGFR1):c.*723G>C rs17182477 0.00220
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_000141.5(FGFR2):c.*111G>A rs574474794 0.00164
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_023110.3(FGFR1):c.*1498C>T rs17182484 0.00141
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_023110.3(FGFR1):c.-124G>A rs17182079 0.00103
NM_023110.3(FGFR1):c.*1770G>A rs183394116 0.00072
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_023110.3(FGFR1):c.*1211G>T rs185104092 0.00038
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_023110.3(FGFR1):c.*963C>T rs567128409 0.00015
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_023110.3(FGFR1):c.*2434C>T rs565758830 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-626C>A rs549524538
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_023110.3(FGFR1):c.*1052C>T rs17176088

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