ClinVar Miner

List of variants reported as uncertain significance for osteoglophonic dwarfism

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.*1026T>C rs542417198 0.00214
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_023110.3(FGFR1):c.*1446A>C rs578094209 0.00081
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
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.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00038
NM_023110.3(FGFR1):c.*1055C>T rs761124911 0.00035
NM_023110.3(FGFR1):c.*2057C>T rs556829066 0.00031
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.-270G>A rs578030717 0.00021
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_023110.3(FGFR1):c.*2407C>T rs758524862 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.*957C>T rs941835357 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.2(FGFR1):c.-747C>G rs917928821 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.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 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.*1560C>T rs761096092 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.*70C>T rs886062918 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.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_023110.3(FGFR1):c.*913G>A rs886062912 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 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_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 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.*2445A>G rs1261528641 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.1006G>A (p.Ala336Thr) rs981703846 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr) rs749758370 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 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.*1144G>A rs886062911
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.*1676G>A rs763761019
NM_023110.3(FGFR1):c.*1723C>T rs1200256665
NM_023110.3(FGFR1):c.*1823G>A rs1814497706
NM_023110.3(FGFR1):c.*212G>A rs1815042970
NM_023110.3(FGFR1):c.*231C>T rs1815036929
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*71A>G rs886062917
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.-466C>T rs1835975713
NM_023110.3(FGFR1):c.-522G>T rs1208796305
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.92-3C>T rs1822349929

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