List of variants studied for Sandhoff disease by Baylor Genetics

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Total variants: 10

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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.115del (p.Val39fs)	rs398123443
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)	rs775920504
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys)	rs1417317737
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser)	rs1057518709
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)	rs1007338250
NM_000521.4(HEXB):c.558+1G>C	rs1198764997
NM_000521.4(HEXB):c.771+5G>C	rs727503959
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)	rs1554034434

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