List of variants reported as pathogenic for GM2 gangliosidosis by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)	rs138914144	0.00001

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