ClinVar Miner

List of variants in gene FGFR3 reported as uncertain significance for FGFR3-related chondrodysplasia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
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.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) rs780415133 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 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.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) rs1560437651
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) rs1721801068
NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) rs1721879424
NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) rs1721879680
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) rs369232922
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) rs1721503041

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