ClinVar Miner

List of variants reported as benign for GM2 gangliosidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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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_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_000520.6(HEXA):c.*589T>G rs11629508 0.73205
NM_000520.6(HEXA):c.*515G>A rs3087652 0.73188
NM_000405.5(GM2A):c.*944T>C rs149174 0.64518
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_000405.5(GM2A):c.*227A>G rs989 0.40371
NM_000405.5(GM2A):c.*2141C>T rs153449 0.36881
NM_000405.4(GM2A):c.-102A>G rs2277028 0.36620
NM_000405.5(GM2A):c.*1445G>A rs153450 0.25029
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723 0.23979
NM_000405.5(GM2A):c.*1994A>G rs12516391 0.21184
NM_000405.5(GM2A):c.*1866C>T rs3806953 0.21159
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000405.5(GM2A):c.*2849G>A rs10076053 0.11816
NM_000405.5(GM2A):c.*938G>A rs1130163 0.09731
NM_000405.5(GM2A):c.*144T>C rs9324686 0.08805
NM_000405.5(GM2A):c.*28C>T rs9324685 0.08802
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) rs61740602 0.07011
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719 0.03595
NM_000405.5(GM2A):c.*2801A>G rs111935946 0.02697
NM_000405.5(GM2A):c.*401G>A rs116809628 0.02370
NM_000405.5(GM2A):c.*1695C>A rs115956086 0.01829
NM_000405.4(GM2A):c.-44G>A rs144932594 0.01013
NM_000405.5(GM2A):c.*536G>T rs151210034 0.00992
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_000405.5(GM2A):c.*824C>A rs186626408 0.00796
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000405.5(GM2A):c.*790C>T rs181571430 0.00637
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_000405.5(GM2A):c.*2430T>C rs3734041 0.00252
NM_000405.5(GM2A):c.*2767C>T rs117832237 0.00252
NM_000405.5(GM2A):c.*1829C>T rs3806952 0.00250
NM_000405.5(GM2A):c.*1239dup rs397883774
NM_000405.5(GM2A):c.*1274dup rs397716595
NM_000405.5(GM2A):c.*2717_*2720del rs35384604
NM_000405.5(GM2A):c.*376del rs397712620
NM_000405.5(GM2A):c.*723dup rs35982513

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