List of variants reported as pathogenic for Sandhoff disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14

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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.1082+5G>A	rs5030731	0.00004
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)	rs1554034452	0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)	rs778501777	0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	rs373979283	0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	rs121907986	0.00001
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
NM_000521.4(HEXB):c.115del (p.Val39fs)	rs398123443
NM_000521.4(HEXB):c.1509-26G>A	rs201580118
NM_000521.4(HEXB):c.171del (p.Trp57fs)	rs771973471
NM_000521.4(HEXB):c.445+1G>A	rs761197472
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	rs573447174

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