ClinVar Miner

List of variants reported as uncertain significance for Tay-Sachs disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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NM_000520.5(HEXA):c.-136G>A rs561320483
NM_000520.5(HEXA):c.-141G>A rs886051462
NM_000520.5(HEXA):c.-167G>A rs77707876
NM_000520.5(HEXA):c.-181T>C rs886051463
NM_000520.5(HEXA):c.-207A>G rs886051464
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.6(HEXA):c.*12C>T rs532797279
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.*355C>G rs188399769
NM_000520.6(HEXA):c.*436C>T rs112626309
NM_000520.6(HEXA):c.*575G>A rs76075374
NM_000520.6(HEXA):c.*76G>A rs558918292
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656
NM_000520.6(HEXA):c.346+13C>T rs200871198
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457
NM_000520.6(HEXA):c.673-13T>C rs75211071

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