ClinVar Miner

List of variants studied for oligosaccharidosis by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030

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