ClinVar Miner

List of variants in gene FGFR1 reported as uncertain significance for osteoglophonic dwarfism

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
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.-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.231C>G (p.Asn77Lys) rs767195580 0.00010
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.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
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.*112C>T rs1189535138 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.*118C>T rs886062916
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.-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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.