ClinVar Miner

List of variants in gene FGFR3 reported as pathogenic for Camptodactyly-tall stature-scoliosis-hearing loss syndrome

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Total variants: 2
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NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) rs587777857
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) rs121913113

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