ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
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.-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.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.2106C>T (p.Pro702=) rs777061347 0.00003
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+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.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2305C>T (p.Leu769=)
NM_023110.3(FGFR1):c.2328C>T (p.Tyr776=)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_023110.3(FGFR1):c.621+3A>G rs1586343015
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.92-10362C>G
NM_023110.3(FGFR1):c.936+114G>A
NM_023110.3(FGFR1):c.936+22G>A

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