List of variants reported as likely pathogenic for GM2 gangliosidosis by Revvity Omics, Revvity

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000521.4(HEXB):c.1082+5G>A	rs5030731	0.00004
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)	rs775585062	0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)	rs121907981	0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_000521.4(HEXB):c.558+5G>A	rs892920643	0.00001
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	rs773446161
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	rs772180415

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