List of variants reported as pathogenic for GM2 gangliosidosis by Myriad Genetics, Inc.

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Total variants: 9

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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.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000520.6(HEXA):c.1421+1G>C	rs147324677	0.00002
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	rs786204585	0.00001
GRCh37/hg19 15q23(chr15:72662932-72670877)
NM_000520.6(HEXA):c.805+1G>A	rs121907980

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