ClinVar Miner

List of variants in gene GDF5 reported as pathogenic for achondrogenesis

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_000557.5(GDF5):c.297dup (p.Arg100fs) rs761962752
NM_000557.5(GDF5):c.404del (p.Pro135fs) rs2146582931

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