ClinVar Miner

List of variants reported for Tay-Sachs disease by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile) rs2542520435
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6:c.572_1146del

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