ClinVar Miner

List of variants in gene combination GDF5, LOC109461476 reported as uncertain significance for acromesomelic dysplasia 2C, Hunter-Thompson type

Included ClinVar conditions (2):
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.-134C>G rs144924248 0.00155
NM_000557.5(GDF5):c.-220C>T rs886056643 0.00010
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_000557.5(GDF5):c.-97T>C rs960967052

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