ClinVar Miner

List of variants in gene FGFR1 studied for acrocephalosyndactyly

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NC_000008.11:g.(?_38424489)_(38461126_?)del
NM_015850.4(FGFR1):c.*2104del rs201364530
NM_023110.2(FGFR1):c.*1026T>C rs542417198
NM_023110.2(FGFR1):c.*1052C>T rs17176088
NM_023110.2(FGFR1):c.*113G>A rs180885042
NM_023110.2(FGFR1):c.*1144G>A rs886062911
NM_023110.2(FGFR1):c.*118C>T rs886062916
NM_023110.2(FGFR1):c.*1211G>T rs185104092
NM_023110.2(FGFR1):c.*1218T>C rs886062910
NM_023110.2(FGFR1):c.*1286C>T rs886062909
NM_023110.2(FGFR1):c.*1439T>C rs11990198
NM_023110.2(FGFR1):c.*1498C>T rs17182484
NM_023110.2(FGFR1):c.*14G>A rs371776128
NM_023110.2(FGFR1):c.*1560C>T rs761096092
NM_023110.2(FGFR1):c.*1616T>G rs886062908
NM_023110.2(FGFR1):c.*1632A>G rs13317
NM_023110.2(FGFR1):c.*1770G>A rs183394116
NM_023110.2(FGFR1):c.*1822A>C rs570038633
NM_023110.2(FGFR1):c.*1965G>A rs886062907
NM_023110.2(FGFR1):c.*2057C>T rs556829066
NM_023110.2(FGFR1):c.*2099T>G rs16887356
NM_023110.2(FGFR1):c.*2188T>C rs146463691
NM_023110.2(FGFR1):c.*2391A>G rs185729862
NM_023110.2(FGFR1):c.*2407C>T rs758524862
NM_023110.2(FGFR1):c.*2434C>T rs565758830
NM_023110.2(FGFR1):c.*313T>C rs886062915
NM_023110.2(FGFR1):c.*313T>G rs886062915
NM_023110.2(FGFR1):c.*494A>G rs562843836
NM_023110.2(FGFR1):c.*569C>T rs17182470
NM_023110.2(FGFR1):c.*70C>T rs886062918
NM_023110.2(FGFR1):c.*71A>G rs886062917
NM_023110.2(FGFR1):c.*723G>C rs17182477
NM_023110.2(FGFR1):c.*762A>G rs886062914
NM_023110.2(FGFR1):c.*845T>C rs886062913
NM_023110.2(FGFR1):c.*906A>T rs139347382
NM_023110.2(FGFR1):c.*913G>A rs886062912
NM_023110.2(FGFR1):c.*958G>A rs537880800
NM_023110.2(FGFR1):c.*963C>T rs567128409
NM_023110.2(FGFR1):c.-124G>A rs17182079
NM_023110.2(FGFR1):c.-270G>A rs578030717
NM_023110.2(FGFR1):c.-286C>T rs4647909
NM_023110.2(FGFR1):c.-338T>G rs527518565
NM_023110.2(FGFR1):c.-358C>T rs17175673
NM_023110.2(FGFR1):c.-385G>A rs2467531
NM_023110.2(FGFR1):c.-636C>T rs3213849
NM_023110.2(FGFR1):c.-699C>T rs328307
NM_023110.2(FGFR1):c.-751C>T rs2445003
NM_023110.2(FGFR1):c.-853G>C rs553799602
NM_023110.2(FGFR1):c.-881G>A rs17182051
NM_023110.2(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.2(FGFR1):c.1082-13C>T rs185831613
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1285-8C>A rs1235765985
NM_023110.2(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1430+13T>C rs763815221
NM_023110.2(FGFR1):c.1430+1G>A rs1554552774
NM_023110.2(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.2(FGFR1):c.160C>T (p.Arg54Cys) rs778531708
NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) rs746123129
NM_023110.2(FGFR1):c.2106C>T (p.Pro702=) rs777061347
NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.2(FGFR1):c.2186+8C>T rs372639138
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2278T>C (p.Leu760=) rs201490643
NM_023110.2(FGFR1):c.2292+3A>G rs747737281
NM_023110.2(FGFR1):c.2293-11G>A rs886062919
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.2(FGFR1):c.2465G>A (p.Arg822His) rs758677681
NM_023110.2(FGFR1):c.273C>T (p.Ser91=) rs201823433
NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) rs55642501
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.336C>T (p.Thr112=) rs148480919
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.350A>G (p.Asn117Ser) rs780765366
NM_023110.2(FGFR1):c.359-13C>G rs376369060
NM_023110.2(FGFR1):c.359-4A>G rs185233212
NM_023110.2(FGFR1):c.375G>A (p.Ser125=) rs17182296
NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) rs201054877
NM_023110.2(FGFR1):c.448+1G>A rs376416531
NM_023110.2(FGFR1):c.449-7C>T rs754454127
NM_023110.2(FGFR1):c.449-9C>G rs17182303
NM_023110.2(FGFR1):c.549C>T (p.Thr183=) rs886062920
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898
NM_023110.2(FGFR1):c.663G>T (p.Val221=) rs766451294
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.2(FGFR1):c.75G>A (p.Pro25=) rs17175757
NM_023110.2(FGFR1):c.787G>A (p.Ala263Thr) rs747978107
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_023110.2(FGFR1):c.91+6G>T rs886062921
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)
NM_023110.3(FGFR1):c.2292+6G>T
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.381_383TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.745+7G>A rs202096944

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