ClinVar Miner

List of variants reported as pathogenic for camptodactyly-tall stature-scoliosis-hearing loss syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) rs587777857
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) rs121913113

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