ClinVar Miner

List of variants studied for Tay-Sachs disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523

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