ClinVar Miner

List of variants reported as likely pathogenic for Sandhoff disease by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	rs121907985	0.00004
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)	rs761117459

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