ClinVar Miner

List of variants studied 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: 31
Download table as spreadsheet
HGVS dbSNP
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_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs) rs387906309
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.*515G>A rs3087652
NM_000520.6(HEXA):c.*575G>A rs76075374
NM_000520.6(HEXA):c.*589T>G rs11629508
NM_000520.6(HEXA):c.*630A>G rs35949555
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.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
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
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.