List of variants reported as pathogenic for GM2 gangliosidosis by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	rs121907956	0.00004
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	rs786204585	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
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.298C>T (p.Arg100Ter)	rs1007338250
NM_000521.4(HEXB):c.558+1G>C	rs1198764997
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)	rs1554034434

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