ClinVar Miner

List of variants in gene FGFR3 studied for syndromic craniosynostosis

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) rs149924317 0.00002
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) rs140211846 0.00002
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys) rs1031160906 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu) rs371729802
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924

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