ClinVar Miner

List of variants in gene combination APRT, GALNS reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.*212C>A rs117754023

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