ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000405.4(GM2A):c.-44G>A rs144932594
NM_000405.5(GM2A):c.*1695C>A rs115956086
NM_000405.5(GM2A):c.*1829C>T rs3806952
NM_000405.5(GM2A):c.*2430T>C rs3734041
NM_000405.5(GM2A):c.*2767C>T rs117832237
NM_000405.5(GM2A):c.*2801A>G rs111935946
NM_000405.5(GM2A):c.*401G>A rs116809628
NM_000405.5(GM2A):c.*536G>T rs151210034
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) rs61740602
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719

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