List of variants reported as pathogenic for GM2 gangliosidosis by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	rs121907956	0.00004
NM_000520.6(HEXA):c.805+1G>C	rs121907980	0.00001
NM_000520.6(HEXA):c.1349del (p.Ala450fs)	rs1057519466
NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs)	rs2140319638

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