ClinVar Miner

List of variants in gene FGFR1 reported by Reproductive Endocrine Unit, Massachusetts General Hospital

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Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu) rs121913473 0.00001
NM_023110.3(FGFR1):c.1009G>C (p.Gly337Arg)
NM_023110.3(FGFR1):c.1016A>G (p.Tyr339Cys)
NM_023110.3(FGFR1):c.1018A>G (p.Thr340Ala)
NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser) rs121909638
NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val) rs1818935081
NM_023110.3(FGFR1):c.1037C>G (p.Ser346Cys)
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.1039dup (p.Ile347fs)
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1058C>T (p.Ser353Phe)
NM_023110.3(FGFR1):c.1063T>C (p.Trp355Arg)
NM_023110.3(FGFR1):c.1063_1064dup (p.Trp355fs)
NM_023110.3(FGFR1):c.1081+1G>T
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1279G>T (p.Val427Leu)
NM_023110.3(FGFR1):c.1285-2A>G
NM_023110.3(FGFR1):c.1285G>T (p.Val429Leu)
NM_023110.3(FGFR1):c.1286T>A (p.Val429Glu)
NM_023110.3(FGFR1):c.1322_1334del (p.Val441fs)
NM_023110.3(FGFR1):c.1384dup (p.Glu462fs)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.1430+1del
NM_023110.3(FGFR1):c.1447C>A (p.Pro483Thr) rs397515444
NM_023110.3(FGFR1):c.1474G>A (p.Val492Met)
NM_023110.3(FGFR1):c.1519_1520insTTTGTTGG (p.Arg507fs)
NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)
NM_023110.3(FGFR1):c.1552+1G>T
NM_023110.3(FGFR1):c.1553-2A>G
NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter)
NM_023110.3(FGFR1):c.1612A>G (p.Ile538Val)
NM_023110.3(FGFR1):c.165_171del (p.Arg56fs)
NM_023110.3(FGFR1):c.1673del (p.Tyr558fs)
NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter)
NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs)
NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)
NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1829G>A (p.Gly610Asp)
NM_023110.3(FGFR1):c.1829G>T (p.Gly610Val)
NM_023110.3(FGFR1):c.1835A>G (p.Glu612Gly)
NM_023110.3(FGFR1):c.1854+1G>A
NM_023110.3(FGFR1):c.1854G>T (p.Lys618Asn)
NM_023110.3(FGFR1):c.1855-2A>C
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1889T>C (p.Leu630Pro)
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs) rs1815805060
NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.3(FGFR1):c.1936C>G (p.Arg646Gly)
NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1977+1G>T
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln) rs1257312391
NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter)
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.3(FGFR1):c.2011G>C (p.Ala671Pro)
NM_023110.3(FGFR1):c.2036del (p.His679fs)
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2054C>G (p.Ser685Cys)
NM_023110.3(FGFR1):c.2057T>C (p.Phe686Ser)
NM_023110.3(FGFR1):c.2058del (p.Phe686fs)
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2062G>T (p.Val688Leu)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.2099C>T (p.Pro700Leu)
NM_023110.3(FGFR1):c.2102A>G (p.Tyr701Cys)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg) rs768957161
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516
NM_023110.3(FGFR1):c.2146G>T (p.Gly716Cys)
NM_023110.3(FGFR1):c.2152C>T (p.Arg718Cys)
NM_023110.3(FGFR1):c.2165C>A (p.Pro722His) rs267606805
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)
NM_023110.3(FGFR1):c.2190_2191dup (p.Met731fs)
NM_023110.3(FGFR1):c.2209T>C (p.Trp737Arg) rs727505377
NM_023110.3(FGFR1):c.2231G>T (p.Arg744Ile)
NM_023110.3(FGFR1):c.2233C>T (p.Pro745Ser)
NM_023110.3(FGFR1):c.2235_2238dup (p.Phe747fs)
NM_023110.3(FGFR1):c.2241C>A (p.Phe747Leu)
NM_023110.3(FGFR1):c.2263G>C (p.Asp755His)
NM_023110.3(FGFR1):c.2293-1G>T
NM_023110.3(FGFR1):c.2302G>C (p.Asp768His) rs121909644
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr) rs121909644
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)
NM_023110.3(FGFR1):c.239G>C (p.Arg80Pro)
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.284A>G (p.Asp95Gly)
NM_023110.3(FGFR1):c.286T>C (p.Ser96Pro)
NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser)
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.3(FGFR1):c.305T>G (p.Val102Gly)
NM_023110.3(FGFR1):c.317C>T (p.Pro106Leu)
NM_023110.3(FGFR1):c.355dup (p.Ser119fs)
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.551dup (p.Asn185fs)
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys) rs863223331
NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)
NM_023110.3(FGFR1):c.591C>A (p.Phe197Leu)
NM_023110.3(FGFR1):c.604A>G (p.Arg202Gly)
NM_023110.3(FGFR1):c.619A>G (p.Lys207Glu)
NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter)
NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter)
NM_023110.3(FGFR1):c.670G>C (p.Asp224His)
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_023110.3(FGFR1):c.682T>G (p.Tyr228Asp)
NM_023110.3(FGFR1):c.694G>A (p.Val232Met)
NM_023110.3(FGFR1):c.700A>G (p.Asn234Asp)
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser) rs121909635
NM_023110.3(FGFR1):c.70del (p.Ser24fs)
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp)
NM_023110.3(FGFR1):c.716T>C (p.Ile239Thr)
NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp) rs2150826896
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp)
NM_023110.3(FGFR1):c.761G>A (p.Arg254Gln)
NM_023110.3(FGFR1):c.764C>T (p.Pro255Leu)
NM_023110.3(FGFR1):c.797C>T (p.Thr266Ile)
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_023110.3(FGFR1):c.841A>G (p.Ser281Gly)
NM_023110.3(FGFR1):c.848C>G (p.Pro283Arg)
NM_023110.3(FGFR1):c.854C>G (p.Pro285Arg)
NM_023110.3(FGFR1):c.887A>T (p.Asn296Ile)
NM_023110.3(FGFR1):c.92-1G>T
NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter)
NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs)
NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) rs2150758220

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