ClinVar Miner

List of variants in gene FGFR1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
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.345C>T (p.Ser115=) rs2915665 0.00567
NM_023110.3(FGFR1):c.-88-1068C>G rs17182148 0.00437
NM_023110.3(FGFR1):c.-88-4584A>G rs148065998 0.00434
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_023110.3(FGFR1):c.2292+36G>A rs17176067 0.00192
NM_023110.3(FGFR1):c.-89+2528C>T rs535589295 0.00134
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_023110.3(FGFR1):c.-88-4999A>G rs777999148 0.00113
NM_023110.3(FGFR1):c.-89+122C>G rs753890237 0.00076
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_023110.3(FGFR1):c.-89+499G>A rs545215318 0.00056
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.2292+3A>G rs747737281 0.00006
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_023110.3(FGFR1):c.74C>T (p.Pro25Leu) rs149206728 0.00004
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.*220T>C
NM_023110.3(FGFR1):c.-88-1138T>G
NM_023110.3(FGFR1):c.-88-1576C>T
NM_023110.3(FGFR1):c.-88-2089C>A
NM_023110.3(FGFR1):c.-88-3884_-88-3882del
NM_023110.3(FGFR1):c.-88-3922A>C
NM_023110.3(FGFR1):c.-88-4970T>G
NM_023110.3(FGFR1):c.-89+1085dup
NM_023110.3(FGFR1):c.-89+1893T>C
NM_023110.3(FGFR1):c.-89+214G>A
NM_023110.3(FGFR1):c.-89+278T>C
NM_023110.3(FGFR1):c.-89+3064G>T
NM_023110.3(FGFR1):c.-89+3248T>A
NM_023110.3(FGFR1):c.-89+3413A>G
NM_023110.3(FGFR1):c.-89+3493A>C
NM_023110.3(FGFR1):c.-89+3827T>C
NM_023110.3(FGFR1):c.-89+3910A>G
NM_023110.3(FGFR1):c.-89+5001A>G
NM_023110.3(FGFR1):c.101G>A (p.Trp34Ter)
NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser) rs121909640
NM_023110.3(FGFR1):c.1621C>G (p.His541Asp)
NM_023110.3(FGFR1):c.1808G>A (p.Cys603Tyr)
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His) rs1415925468
NM_023110.3(FGFR1):c.2203G>C (p.Asp735His)
NM_023110.3(FGFR1):c.2305C>T (p.Leu769=)
NM_023110.3(FGFR1):c.2328C>T (p.Tyr776=)
NM_023110.3(FGFR1):c.2334del (p.Ser779fs)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_023110.3(FGFR1):c.386A>G (p.Asp129Gly)
NM_023110.3(FGFR1):c.400_401inv (p.Ser134Asp)
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.621+3A>G rs1586343015
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.814A>T (p.Asn272Tyr)
NM_023110.3(FGFR1):c.81G>A (p.Leu27=)
NM_023110.3(FGFR1):c.92-10362C>G
NM_023110.3(FGFR1):c.936+114G>A
NM_023110.3(FGFR1):c.936+22G>A

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.