List of variants reported as pathogenic for GM2 gangliosidosis by Counsyl

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Total variants: 7

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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.1A>G (p.Met1Val)	rs121907965	0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	rs121907986	0.00001
NM_000520.6(HEXA):c.1330+1G>A	rs767041069
NM_000520.6(HEXA):c.346+1G>A	rs797044432
NM_000521.4(HEXB):c.171del (p.Trp57fs)	rs771973471
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)	rs761117459

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