List of variants studied for GM2 gangliosidosis by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	rs121907956	0.00004
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	rs121907986	0.00001
NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg)
NM_000520.6(HEXA):c.1329A>C (p.Glu443Asp)
NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg)
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)	rs1057519462
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	rs772180415
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000521.4(HEXB):c.1049A>T (p.His350Leu)	rs2112175313
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
NM_000521.4(HEXB):c.1540_1541del (p.Trp514fs)
NM_000521.4(HEXB):c.197C>T (p.Thr66Ile)
NM_000521.4(HEXB):c.766A>C (p.Asn256His)	rs2112156485

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