ClinVar Miner

List of variants reported as likely pathogenic for Tay-Sachs disease by Invitae

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72640007)_(72641620_?)dup
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) rs1177678117
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
NM_000520.6(HEXA):c.254-1G>C
NM_000520.6(HEXA):c.254-2A>G rs2088785868
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000520.6(HEXA):c.413-1G>A
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.459+1G>A rs2140326761
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) rs28941771
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp) rs2088664194
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
NM_000520.6(HEXA):c.986+1G>A rs2140322856
NM_000520.6(HEXA):c.986+1G>C rs2140322856
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)

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