ClinVar Miner

List of variants in gene FGFR3 studied for hematologic disorder

Included ClinVar conditions (812):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) rs747694886 0.00006
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
t(4;14)(p16.3;q32.3)

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