ClinVar Miner

List of variants reported as benign for Tay-Sachs disease, variant AB

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_000405.5(GM2A):c.*944T>C rs149174 0.64518
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
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_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_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_000405.5(GM2A):c.*824C>A rs186626408 0.00796
NM_000405.5(GM2A):c.*790C>T rs181571430 0.00637
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.33C>T (p.Ile11=) rs143867953 0.00096
NM_000405.5(GM2A):c.126G>A (p.Gly42=) rs113271740 0.00041
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
NM_000405.5(GM2A):c.244-6del
NM_000405.5(GM2A):c.244-6dup

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