ClinVar Miner

List of variants reported as likely benign for Tay-Sachs disease, variant AB by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.*2643G>T rs114108271 0.01991
NM_000405.5(GM2A):c.*226C>T rs537947985 0.00255
NM_000405.5(GM2A):c.*864C>T rs191120902 0.00151
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.*255C>T rs75026189 0.00016
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) rs28365994 0.00013
NM_000405.5(GM2A):c.*629C>T rs184763035 0.00012
NM_000405.5(GM2A):c.*1312G>T rs541345989

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