ClinVar Miner

List of variants in gene FGFR2 studied for Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_000141.5(FGFR2):c.287G>T (p.Gly96Val) rs1277734487 0.00005
NM_000141.5(FGFR2):c.1818C>T (p.Cys606=) rs371395564 0.00003
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1637A>C (p.Asn546Thr) rs765658636 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.419C>T (p.Ala140Val) rs752501698 0.00001
NM_000141.5(FGFR2):c.67C>A (p.Pro23Thr) rs1309596973 0.00001
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1029G>A (p.Leu343=)
NM_000141.5(FGFR2):c.1062T>A (p.Ser354=)
NM_000141.5(FGFR2):c.1117C>T (p.Pro373Ser)
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)
NM_000141.5(FGFR2):c.119C>T (p.Thr40Ile)
NM_000141.5(FGFR2):c.1200G>A (p.Met400Ile)
NM_000141.5(FGFR2):c.1252C>G (p.Leu418Val)
NM_000141.5(FGFR2):c.1262G>A (p.Arg421His)
NM_000141.5(FGFR2):c.1303A>G (p.Ser435Gly)
NM_000141.5(FGFR2):c.1313T>C (p.Met438Thr)
NM_000141.5(FGFR2):c.1325C>T (p.Thr442Ile)
NM_000141.5(FGFR2):c.1328C>G (p.Pro443Arg)
NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala)
NM_000141.5(FGFR2):c.1355C>T (p.Ser452Phe)
NM_000141.5(FGFR2):c.1367A>G (p.Asp456Gly)
NM_000141.5(FGFR2):c.1372C>A (p.Pro458Thr)
NM_000141.5(FGFR2):c.143A>C (p.Glu48Ala)
NM_000141.5(FGFR2):c.1486G>A (p.Val496Ile)
NM_000141.5(FGFR2):c.151G>A (p.Val51Met)
NM_000141.5(FGFR2):c.1531G>T (p.Ala511Ser)
NM_000141.5(FGFR2):c.160C>T (p.Pro54Ser)
NM_000141.5(FGFR2):c.1800C>T (p.Phe600=)
NM_000141.5(FGFR2):c.1840A>G (p.Met614Val)
NM_000141.5(FGFR2):c.1907A>G (p.Glu636Gly)
NM_000141.5(FGFR2):c.1915G>A (p.Val639Met)
NM_000141.5(FGFR2):c.1957A>C (p.Asn653His)
NM_000141.5(FGFR2):c.195A>G (p.Lys65=)
NM_000141.5(FGFR2):c.1986+19C>G
NM_000141.5(FGFR2):c.2056G>A (p.Val686Ile)
NM_000141.5(FGFR2):c.2231C>T (p.Pro744Leu)
NM_000141.5(FGFR2):c.2240G>T (p.Arg747Ile)
NM_000141.5(FGFR2):c.2246C>T (p.Thr749Met)
NM_000141.5(FGFR2):c.2251A>C (p.Lys751Gln)
NM_000141.5(FGFR2):c.2260G>A (p.Val754Ile)
NM_000141.5(FGFR2):c.2276G>A (p.Arg759Gln)
NM_000141.5(FGFR2):c.236T>G (p.Leu79Trp)
NM_000141.5(FGFR2):c.2411C>T (p.Pro804Leu)
NM_000141.5(FGFR2):c.248A>T (p.Asn83Ile)
NM_000141.5(FGFR2):c.257T>G (p.Val86Gly)
NM_000141.5(FGFR2):c.293C>T (p.Thr98Met)
NM_000141.5(FGFR2):c.43A>C (p.Met15Leu)
NM_000141.5(FGFR2):c.532C>T (p.Arg178Cys)
NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp)
NM_000141.5(FGFR2):c.556A>G (p.Met186Val)
NM_000141.5(FGFR2):c.610A>G (p.Ile204Val)
NM_000141.5(FGFR2):c.68C>A (p.Pro23His)
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.904G>A (p.Gly302Arg)
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)
NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)
NM_000141.5(FGFR2):c.988C>T (p.Arg330Trp)
NM_022970.4(FGFR2):c.1017A>G (p.Ile339Met)

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