ClinVar Miner

List of variants reported as pathogenic for Sandhoff disease, juvenile form by OMIM

Included ClinVar conditions (1):

Sandhoff disease, juvenile form

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)	rs121907982	0.00004
NM_000521.4(HEXB):c.1509-26G>A	rs201580118

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