List of variants reported as likely pathogenic for Tay-Sachs disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	rs587779406	0.00011
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000520.6(HEXA):c.436del (p.Val146fs)	rs1057517174	0.00002
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	rs750727201	0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)	rs759092928	0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	rs769035623	0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His)	rs121907971	0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=)	rs28942072	0.00001
NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)	rs2089059318
NM_000520.6(HEXA):c.1183del (p.Asp395fs)	rs770303210
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)	rs777042785
NM_000520.6(HEXA):c.1421+1G>T	rs147324677
NM_000520.6(HEXA):c.1499del (p.Leu500fs)	rs1567295184
NM_000520.6(HEXA):c.1525_1526+27del	rs2140319516
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)	rs1555472161
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	rs773446161
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)	rs2088690482
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)	rs121907954
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	rs121907977
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)	rs121907967

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