ClinVar Miner

List of variants in gene FGFR3 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909 0.20412
NM_000142.5(FGFR3):c.417C>T (p.Asp139=) rs3135867 0.03551
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00201
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000142.5(FGFR3):c.1646-4C>T rs200428838 0.00054
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00048
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00031
NM_000142.5(FGFR3):c.771G>A (p.Ala257=) rs138334098 0.00021
NM_000142.5(FGFR3):c.967G>A (p.Val323Ile) rs753520867 0.00017
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) rs146662137 0.00015
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00014
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000142.5(FGFR3):c.2148C>T (p.Pro716=) rs373967853 0.00007
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537

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