ClinVar Miner

List of variants studied for Tay-Sachs disease by Illumina Laboratory Services, Illumina

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000520.6(HEXA):c.*589T>G rs11629508 0.73205
NM_000520.6(HEXA):c.*515G>A rs3087652 0.73188
NM_000520.6(HEXA):c.*630A>G rs35949555 0.05706
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00277
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00054
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00042
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00029
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000520.5(HEXA):c.-181T>C rs886051463 0.00003
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656 0.00001
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.1421+15G>C rs185764548

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